Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism; it is defined by the presence of the Mullerian duct derivatives (the uterus, the fallopian tubes, and the upper vagina) in genotypically and phenotypically males. Seminoma is the most common type of testicular tumor in the third and fourth decade of life. We report a case of intra-abdominal seminoma in a patient with bilateral undescended testes and persistent Mullerian duct syndrome.Severe renal trauma is a particular entity, although rare, but most often involves the risk of short-term death from hemorrhagic shock and long-term death from infectious complications or secondary renal dysfunction, exceptionally post-renal vascular hypertension. Which is generally a late complication, we will report the case of a patient suffering from grade v renal trauma with early post-traumatic renal vascular hypertension, suppressed by medical treatment, then the surgical indication was kept in the second phase in front of a mute kidney.Extravasation of urine following rupture of the renal fornix is a rare complication mostly caused by obstruction secondary to distal ureteric stones. We report the case of a rupture of FORNIX secondary to a bladder tumor.Immune-related cutaneous events can develop after immunotherapy. To our knowledge, we present the first reported case of isolated focal penile inflammatory ulceration in a patient being treated with Nivolumab for stage IV non-small cell lung carcinoma. He presented with a painless penile ulceration two months after initiating therapy. He had near-complete resolution of his ulcer after two weeks of topical treatment. Histologic evaluation revealed a drug eruption. While cutaneous events are a well-known side effect of immunotherapy, this is the first report of an isolated penile lesion from such therapy.Percutaneous nephrolithotomy (PCNL) despite its minimally invasive approach has an high complication rate, with the most common complications being extravasation of urine and perioperative bleeding requiring transfusion. While most of these complications are minor, many serious and life-threatening complications do occur. One such complication is the development of hemothorax or hydrothorax which usually develops in the early postoperative period with blood or urine passing from the surgical site through a newly established pleural-peritoneal fistula. Here we describe an unusual presentation and clinical management of delayed onset acute urohemothorax and hemodynamic collapse several days following PCNL.We present a 42 year old man, who was admitted in the Urology Department with symptoms of unilateral, painless, hard and firm slow-growing mass of the left scrotum for 4 months. Pelvic computed tomography (CT) scan showed a 8 cm3 mass lesion in the left hemiscrotum. Left radical orchiectomy and wide excision were performed and a yellowish soft tissue mass measuring closely attached to the spermatic cord was resected during surgery. Histopathologic evaluation revealed a tumor mass composed of well-differentiated liposarcoma.Prostate cancer often spreads to bony sites, but other metastatic sites are exceptional. Brain localization accounts for less than 4% of postmortem cases.The cerebral metastases of a prostatic ADK are rare, the prognosis is unfortunate and the treatment is based on androgen deprivation and radiotherapy. We describe a case of orbital metastasis of prostatic adenocarcinoma and we highlight the diagnostic and therapeutic singularity of this affection.The iatrogenic injury of the vas deferens after bilateral hernia repair is rarely found in childhood, and can only diagnose when the patient is infertile after marriage. Azoospermia caused by iatrogenic bilateral vas deferens injury is common in clinic. In the past, patients who had varicocele ligation, pelvic surgery, kidney transplantation and testicular descent fixation may have iatrogenic vas deferens injury. Hernia repair is the most common cause of vas deferens injury, most of which is vas deferens cut and ligated. In this report, we describe a case of obstructive azoospermia after bilateral hernia repair, which was naturally pregnant after laparoscopic assisted microsurgery.Endometriosis is the ectopic presence of endometrial tissue outside of the uterus. Bladder involvement of these lesions is not uncommon and has been reported and studied extensively. Mullerianosis is a term that describes the ectopic presence of tissues from the endocervix and endosalpinx in extrauterine sites. Only a few cases of Mullerianosis involving the urinary tract system have been reported in literature. We report a case of a 32-year-old lady with bladder mass and periodic hematuria and dysuria. She underwent TURBT 1and on histopathology was found to have bladder Mullerianosis. Patient was later treated with oral contraceptives with improvement.Basal cell carcinoma (BCC) is the most commonly occurring carcinoma among humans. Reports of this lesion on nonexposed areas, such as the scrotum, soles, vulva, groin, pubic region, and axilla, are relatively uncommon. We present the case of a male patient with BCC located in the scrotum with a duration of 12 years who was successfully treated by local excision. Histopathology revealed infiltration by BCC. Our objective of this report is to remind specialists like urologists of the possibility of scrotal BCC when encountering scrotal lesions of unknown origin or not responding to topical treatments in a reasonable time frame.Clear cell variants of transitional cell carcinoma of upper urinary tract is extremely rare. Although clear cell of urinary bladder has been reported, its occurrence in the upper tract has not been reported readily in literature. We present a case of 77 year old female who was suspected with TCC of the ureter, but was found to have clear cell variant on histology post radical nephroureterectomy. This was the first such case in our institution.Urinary calculi are a frequent complication of urinary diversion following radical cystectomy, including in ileal conduit systems. We report the case of a 38-year-old man with ileal conduit urinary diversion, following radical cystectomy for transitional cell cancer, who presented with symptomatic bilateral kidney stones. By reporting the medical record and management procedure for this patient, we aim to demonstrate the successful management of kidney stones via supine percutaneous nephrolithotomy, using an Alken telescopic metal dilator, under spinal anesthesia. Consistent with most literature, percutaneous nephrolithotomy was the best management procedure in this case.we presented a case of drug-induced interstitial nephritis in a 43-year-old woman, having the history of renal calculi, as a result of sodium valproate and triamterene. Renal biopsy was used to confirm the diagnosis, however, due to poor prognosis along with discontinuation of drugs, she was treated with corticosteroids.Rhabdomyosarcoma of the urinary tract is very rare among young adult and the survival has improved significantly. The challenge of such location is to ensure better functional outcomes like continence and sexuality without compromising the overall survival. Throughout this case, we bring new insights into the conservative management of prostatic sarcoma and we focus on the role of radio-chemotherapy for local disease control.The use of ureteral stent has became an integral part of urological practice. However, its use is not without complications. Stenting knotting represents a rare complication but can be difficult to manage, with less than 30 cases reported in the literature. We report a case in which a complete knot was found in the proximal coil of an indwelling ureteral stent. The knotted stent was untied and removed successfully by ureteroscopy under fluoroscopic guidance.Iatrogenic ureteral rupture is a serious complication. In the past, ileal ureter substitution was performed with open, laparoscopic, and robot-assisted procedure; however, there are problems with operation invasiveness and difficulty. We present a 72-year-old female whose ureter was completely injured at the ureteropelvic junction and torn longitudinally in full length at the time of transurethral lithotripsy. Although initially she had nephrostomy, we were able to internalize with hand-assisted laparoscopic ileal ureter substitution for obstruction over the full length of the ureter.A 26-year-old male presented with an obstructing calculus in the mid superior-moiety ureter in a duplicated urinary collecting-system. A sequela of the obstruction resulted in a symptomatic stricture in a functional superior-moiety ureter, unresponsive to endoscopic interventions. An ipsilateral robot-assisted laparoscopic side-to-side ureteroureterostomy was performed thus bypassing the stricture in the superior-moiety ureter. Follow up endoscopic visualisation showed a healthy, patent anastomosis. This video presentation shows appropriate positioning, operative technique and follow up for a robot assisted side-to-side ureteroureterostomy. Our minimally invasive novel method is a feasible and safe treatment of a duplex collecting system with a symptomatic ectopic ureter.Epididymo-testicular infarction associated with ischemia of spermatic cord without torsion secondary to an orchiepididymitis is an extremely rare pathological entity, of little known etiopathogenesis and idiopathic in the majority of cases. The authors report an original observation of a 23-year-old young patient with a history of untreated orchiepididymitis, which presented to the emergency department for testicular pain. The ultrasound has showed an ischemic testicle and the exploratory scrototomy objectified an epididymo-testicular necrosis associated with ischemia of spermatic cord without torsion. This case highlighted the interest of early diagnosis and effective treatment of orchiepididymitis to prevent this rare serious complication.Prostate cancer is the fifth most common malignancy worldwide and the second most common in men. It usually metastasizes to bony skeleton, followed by lung, liver, pleura and adrenals. We report a 71 year old male patient who initially presented only with retroperitoneal lymphadenopathy and constitutional symptoms, misleading the diagnosis of retroperitoneal lymphoma. Who later on was discovered to have carcinoma prostate.Renal sarcoma-like collecting duct cancer is a rare tumor. A 68-year-old man was admitted to the hospital due to chest tightness and back swelling. Computed tomography showed solid occupying of the superior cyst of the left kidney. He underwent radical resection of left kidney cancer. The pathological result is collecting duct carcinoma with sarcoma-like changes. This report helps to understand the clinical manifestations and treatment of the disease.An otherwise healthy 43-year old woman presented with a large upper pole mass of the left kidney. Transabdominal left-sided nephrectomy including adrenalectomy was performed. Histopathological examination revealed extraadrenal pheochromocytoma with infiltration of the kidney. Awareness of this rare condition could avoid potentially dangerous cardiovascular complications during surgery.Small cell carcinoma (SCC) is an aggressive histologic subtype of neuroendocrine tumor and is most commonly of bronchogenic origin. However, it can present in an extrapulmonary fashion. Primary extrapulmonary small cell carcinoma (EPSCC) is a rare disease entity, especially within the genitourinary system and furthermore of the adrenal gland. There are scarce case reports that describe management of primary adrenal SCC. We present a case of localized primary adrenal SCC diagnosed on adrenal mass biopsy and successfully treated via neoadjuvant chemotherapy and extirpative surgery.Ureteric stone disease is increasing, especially in developed countries, and present in different ages with various patterns; it has many treatment modalities and outcomes. Ureteric stones are usually small and symptomatic but maybe large, asymptomatic associates with totally distracted kidneys. However, some ureteral calculi show silent progression to reach a large size without underlying anatomic abnormalities. These stones are called giant ureteral stones and seen extremely rare. In this study, we report a case of large ureteral stones with 13 cm length on the right side with atrophy of the right kidney.A 68-year-old man visited our hospital complaining of painless left scrotal swelling. Stony hard mass was palpable at cephalad side of the testis. MRI showed a solid component mass mimicking epididymal tumor. Thus, exploratory surgery was performed. Since the tumor was firmly adhesive to the spermatic cord, an orchiectomy was unavoidable. The pathological result was hematocele of the spermatic cord.The genital strangulation is uncommon urological emergency, due to self placement of encircling constricting peno-scrotal objects. It represents a great challenge to remove the constricting device. herein, we present a case of peno-scrotal strangulation in a young drug addict man, that we saved by quickly removing the constricting device using a rotating electric saw.We report a case of penetrating gunshot injury to the posterior urethra sustained by a low-velocity projectile during a civilian drive-by shooting. The bullet passed through the prostatic urethra, missing other vital organs and both the internal and external urethral sphincters. Following a period of urethral catheterisation, the patient made a complete recovery with good continence and sexual function.Localized treatment has recently become an option for treating oligometastatic prostate cancer. Metastasis-directed therapy (MDT) is a new approach for localized treatment, and many clinical trials are ongoing. In the present case, biochemical recurrence occurred 8 months after a radical prostatectomy for localized prostate cancer, and oligometastases were diagnosed via whole-body magnetic resonance imaging. Metastasis-directed radiotherapy (MDRT) was performed on all oligometastatic sites. After MDRT without androgen deprivation therapy, the prostate-specific antigen (PSA) decreased to an undetectable level and did not increase for 24 months.In this contemporary era,ureteric injuries are not uncommon. They are inadvertent and overwhelming complication following pelvic surgeries.We describe a case of Uretero-uterine fistula (UUF) in a 36 year old woman, who underwent repeat lower cesarean section two months earlier, admitted with complaints of paradoxical incontinence of urine and copious watery vaginal discharge. After extensive clinical and radiological evaluations, she underwent robotic bilateral ovary preserving hysterectomy with ureteroneocystostomy (Boari flap and psoas hitch with Double J stenting).A 38 year old hepatitis C and Hemophilia Type A patient presented with recurrent hematuria since 6 months. Investigations revealed a 5 cm lesion in the lateral wall of the bladder with perivesical fat stranding. PET CT showed a FDG avid lesion measuring 4 cms in the bladder with non FDG avid Iliac nodes. Bladder preserving protocols were not considered in this patient in view of the need for further adjuvant treatment. Patient underwent a Radical cystectomy with bilateral pelvic lymph node Dissection and Ileal Neo-bladder after optimisation with Factor VIII transfusion and correction of bleeding parameters.Tuberculosis remains a leading cause of morbidity and mortality in developing countries, including my country. It usually affects the lungs, but it can also affect other parts of the body. Its prostatic location is very rare, described for the first time by Jasmin in 1882. The diagnosis of certainty requires positive cultures, Ziehl – Nielsen staining, PCR and/or histological examination. Therapeutically, antituberculous chemotherapy has radically transformed the management of tuberculosis, and is currently the basis of treatment for this condition. We report an original observation of pauci-symptomatic disseminated tuberculosis revealed by an increase in the prostate specific antigen (PSA).[This corrects the article DOI 10.1016/j.eucr.2020.101181.].Insertion of double-J (DJ) stent is common in pediatric urology practice as an internal urinary diversion. The DJ stent may migrate proximally into the renal pelvis which is a rare complication. We used a wire lasso to ensnare DJ stent ste through the nephrostomy route using a rigid cystoscope to retrieve the upward migration of DJ stent in 7 years old boy with right vesico-ureteric junction obstruction that previously had a re-implantation of the right ureter. As a result, the DJ stent were safely retrieved with slightly hematuria that improved before 24 hours.Penoscrotal lymphedema is a rare condition. The authors present an exceptional case of a 60-year-old male patient who presented with a penoscrotal lymphedema leading to the discovery of an underlying lymphoma. The patient underwent chemotherapy followed by an excision of the affected tissues with reconstructive surgery with satisfactory results.Splenogonadal fusion is a rare benign congenital anomaly with few cases described in the literature. It is 16 times more common in males than in females. A 22 year-old healthy male with cryptorchidism presented with preoperative imaging strongly suggestive of malignancy. Histopathology after left orchiectomy showed mixed splenic and testicular tissue with no sign of malignancy. Splenogonadal fusion is rarely diagnosed preoperatively. It should be included in differential diagnoses in patients presenting with a testicular or abdominal mass. Greater recognition of this rare anomaly may facilitate testis sparing surgery in future cases.Meckel’s diverticulum is the most common congenital malformation of the gastrointestinal tract. In this report, we present a patient with a Meckel’s diverticulum that was incidentally discovered on prostate-specific membrane antigen positron emission tomography/computed tomography (PSMA PET/CT) imaging performed for prostate cancer staging. We discuss hypotheses for why the Meckel’s diverticulum showed high uptake of PSMA-targeted radiotracer and the clinical implications of this finding.Double J stents are used commonly in modern urology and the occurrence of complications is rare. Here we report a case of renocolic fistula due to a misplaced ureteral stent, not so far reported in the literature. Early diagnosis and intervention like ureteral stent exchange in our case, can avoid the need for nephrectomy.The prognosis of Hybrid oncocytic chromophobe tumor (HOCT) is usually excellent, nevertheless, we are reporting a rare case of HOCT that resulted in death from tumor infection and rupture. Bilateral solid and cystic masses were detected in a 55-year-old woman during a computed tomography examination. HOCT was diagnosed following histopathological examination obtained during needle biopsy. Watchful waiting at another hospital was selected as the treatment strategy. Three years later, she was referred to our hospital in shock and died on the 3rd hospital day. The cause of death was thought to be peritonitis secondary to rupture of an infected HOCT.Urogenital Myiasis is rarely documented in developed countries, so epidemiological data are limited and often associated with travel to endemic regions. We report a Case of urogenital myiasis, unassociated with travel, in a 31 year old male. The patient presented to the emergency department after passing a larval fly during micturition. Pathologic examination of the initial urine sample confirmed the presence of living fly larvae and further evaluation was arranged with the urology department. The patient had no further episodes, and resolution was confirmed via urinalysis and cystoscopy. Several common risk factors were identified, including poor sanitation and hygiene.The Common sites for breast cancer metastasis include bones, lungs, brain and liver. Kidney metastases from the breast are rare. We report a case of metastatic kidney cancer. A 33-year-old woman who underwent a left mastectomy at the age of 30 for breast cancer followed by pulmonary and cerebral metastasis under chemotherapy. The CT scan revealed two right kidney lesions. He imitated a primary kidney tumor. Percutaneous kidney tumor biopsy confirmed metastases from breast cancer. Kidney surgery was avoided and treated with systemic chemotherapy.A 28 years old man presented with left testicular swelling for recent few months. Ultrasonography and Computed tumor scan was in favor of solid cystic mass. The patient underwent left radical orchiectomy. The pathology diagnosis with aid of Immunohistochemistry staining approved the mullerian duct origin. Papillary serous carcinoma of ovarian type(PSCOT) is diagnosed for him. The patient treated successfully he was symptom free in two years follow up after orchiectomy. Timely diagnosis of PSCOT and orchiectomy are the keys of the patient survival; because prior to tumor spreading, the patient can be discharged after orchiectomy without adjuvant treatment.Approximately 50% of men with NOA have minimal sperm production within their dysfunctional testes. Studies shown poor correlations between testicular size and sperm retrieval rates. A 34 years old man with NOA and bilateral testicular atrophic had a successful sperm extraction using mTESE from his 2.1 cc right testicle. Lower testicular volumes significantly decrease sperm retrieval rate in mTESE. However, we described a successful mTESE in atrophic testis. Therefore, small testicular volume does not affect the successful rate of mTESE and should not be a contraindication.We report a case of cooccurrence of xanthogranulomatous and emphysematous pyelonephritis along with necrotizing fasciitis (NF) of scrotum and premium in a patient was nondiabetic and the history of kidney stones. This case a unique presentation of NF due to two pyelonephritis causing fournier gangrene. Surgical management and antibiotics provide an effective management of the disease.We report a case of a 87-year-old woman with a Burkitt’s Lymphoma of the Bladder. She presented with hematuria. Cystoscopy, computed tomography and magnetic resonance imaging revealed extramural invasion of a 6-cm-sized tumor that extended from the right wall to the neck of the bladder. The histological pattern was Burkitt’s lymphoma. The patient was then treated by chemotherapy. The tumor disappeared after 4 cycles of chemotherapy. The urogenital tract has been described in the literature as a primary tumor location in cases of non-Hodgkin’s lymphoma, however, it is rarely the tumor site in Burkitt’s lymphoma cases.Crossed fused ectopic kidney represents a rare congenital malformation, and development of an angiomyolipoma (AML) in a crossed fused ectopia is even rarer. There is no clear association between both entities. However, approximately half of crossed fused renal ectopic patients may develop infections, obstruction and/or nephrolithiasis. Nevertheless, they are very rarely associated with carcinoma. To our knowledge, this is the first case of AML in crossed fused renal ectopia. In this report, we present a patient with a left renal angiomyolipoma in a crossed fused renal ectopia managed by embolization. In addition, a literature review for relevant cases will be provided.Primary ureteral lymphomas are rare. We present a case of extranodal B-cell lymphoma of the ureter presenting as asymptomatic bilateral ureteral obstruction. A 34-year-old male was incidentally found to have obstructive uropathy. Imaging showed severe bilateral hydronephrosis and percutaneous nephroureteral stents were placed. Diagnostic work up did not uncover any apparent etiology to the obstruction. Histopathological analysis of the ureter excised during ureteral reimplantation revealed CD20+, CD5-, CD10- B-cell lymphoma with areas of aggressive disease. The patient received six cycles of R-CHOP chemotherapy and is currently disease free.We present case of left flank pain and a large sewing needle in the left kidney of a 34-year-old man, which was later removed using laparoscopic approach. To the best of our knowledge, our case appears to be the second case of its kind successfully treated using laparoscopic approach.The adrenal lipoma is an extremely rare, benign, and non-functional tumor. We present the first case of adrenal lipoma on the African continent and the youngest patient reported to date. computed tomography (CT) scan guided diagnosis and laparoscopic adrenalectomy was performed given symptomatic and large mass. Histological examination confirmed the diagnosis. At 12 months after the surgery, the patient had no evidence of recurrence.Xanthogranulomatous pyelonephritisis (XGP) is a rare and aggressive form of chronic urinary tract infection. The most common microorganism is Proteus but other microorganisms have been described in the literature. In this article, we describe a sixty-year-old male who presented with urosepsis and sever thrombocytopenia secondary to Fusobacterium nucleatum urinary tract infection which led to poorly functioning XGP. The rarity of the microorganism and the devastating clinical course encourages us to report it as anaerobes don’t usually cause UTI but unusual microorganism should be suspected if the clinical course is atypical or if urinary tract abnormalities are present.Bladder pheochromocytomas are rare catecholamine-secreting tumours of chromaffin cells. Sympathetic system stimulation due to Catecholamine over secretion during micturation is the most common presentation. Unsuspected bladder pheochromocytoma can result in hypertensive crisis during transurethral resection of bladder tumor (TURBT). In contrast to the urothelial tumours, bladder pheochromocytomas are hypervascular on enhanced CT scan. In this article we report a case of pheochromocytoma managed successfully by TURBT and followed up for 1 year.A collision tumour of the kidney is a very rare condition defined by two immediately adjacent but histologically distinct neoplasms that coexist within one organ without histological admixture. We present a collision tumour in a transplant kidney treated with open partial nephrectomy. This case also highlights key surgical principles the enhanced risk of oncogenesis in transplant recipients, and some key principles for surgical resection of a tumour in a transplant kidney.Vulvar pain is a common complaint in women during reproductive and post-reproductive years. A 70-year-old woman experienced severe intractable vulvar pain after bladder cancer surgery and adjuvant radiation therapy. We performed five fluoroscopy-guided pudendal nerve blocks. Her numeric rating scale decreased from 10 to 3, and after 5 months, her pain was controlled only with oral medication. Pudendal nerve block might stop ongoing sensitization which lead acute nociceptive vulvar pain into chronic neuropathic vulvodynia by attenuating nociceptive stimulation and inflammation.Synchronous occurrence of triple primary cancers of urinary tract is quite rare and represents a difficult treatment challenge. Here, we report a case of a 78-year-old man with synchronous renal cell carcinoma, urothelial carcinoma of urinary bladder and adenocarcinoma of prostate within a short period. To the best of our knowledge, this is the 20th reported of triple primary cancers of urinary tract and the first synchronous case with bone metastasis in the literature.Giant tumoral calcinosis is frequently seen around the joints in patients on maintenance hemodialysis (MHD), while it is rarely seen in the scrotum alone. In this paper, we report a 46-year-old male MHD patient who had a giant painless mass in the right scrotum for 2 years, which was removed by a single complete resection and was pathologically confirmed to be tumoral calcinosis. The prognosis of the patient was satisfactory. Uremic scrotal mass should be distinguished from this disease.We are presenting a case of 42 year old male, suffering from secondary infertility. Nine years ago he developed bilateral scrotal pain followed by azoospermia and infertility. At our center during vasography we found that the dye was not seen in bladder or prostatic urethra. But interestingly a direct communication was observed between both seminal vesicles, and through that channel an indirect communication was observed between both vas deferens. It is suggested that the patient developed obstructive azoospermia as a sequel of epididymo-orchitis. It is also concluded that seminal vesicle communication was initially not a primary problem for patient’s fertility.Neglected DJ stent is a challenging case, due to the procedures required, using fluoroscopy, as seen in ESWL, URS, and PCNL. This study presents the case of a 54 years old woman with pyelum and ureter stones, alongside neglected DJ stent for about a year. Treatment was started with cystoscopy, URS lithotripsy, which was continued with kidney puncture, and the subsequent dilatation with Alken Metal Telescopic Dilator. All steps were performed under the guidance of ultrasonography without fluoroscopy. The result showed a successful removal of DJ stent, which was achieved percutaneously, and no remaining stone was found.Tubulocystic renal cell carcinoma (RCC) is one of the newly recognized subtypes of RCC. It has a unique cystic morphology and indolent behavior. During the last decade, few studies have been published describing tubulocystic RCC with poorly differentiated foci. A subset of these cases are associated with loss of fumarate hydratase which is a characteristic feature of hereditary leiomyomatosis and renal cell carcinoma-associated RCC. However, these two entities represent two distinct subtypes of RCC in the recent WHO Classification of kidney tumors. Herein, we are describing a rare case of tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase.Capillary leak syndrome (CLS) is a rare disorder associated with an increased capillar permeability due to an endothelial damage, causing leakage of plasma and proteins into the interstitial compartment. CLS is characterized by rapidly developing edema, hypotension and hypoproteinemia. We observed CLS in a 54-year-old man affected by muscle-invasive bladder cancer who received neoadjuvant treatment with Cisplatin and Gemcitabine. Treatment with infusion of albumin and increasing corticosteroid doses and diuretics led to a complete regression of all signs and symptoms related to the disorder. Of note, the patient showed an objective complete response to chemotherapy and underwent radical surgery on schedule.

Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase (

) gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present study’s aim was to evaluate the available data on all PKU patients in Latvia.

The medical records of 116 – DNA sample was available in 110 patients (102 nonrelated individuals) diagnosed with PKU in Latvia were obtained. Phe concentrations were measured in dried blood spots. Genomic DNA was analyzed for pathogenic variants in the

gene. Biochemical data were available through follow-up visits of the 83 patients.

In 97% of patients (99 of 102), pathogenic variants were detected on both alleles. With an occurrence of 69.6%%, the most common pathogenic variant was the severe pathogenic variant p.Arg408Trp. The available data for 83 patients revealed that metabolic control was better in younger age groups and worse in adults.

Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients’ groups is lower than expected, especially it is poor in adult age group.

Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients’ groups is lower than expected, especially it is poor in adult age group.An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed. The TAS was used in a research study of patients (n = 86) with the neuronopathic form of MPS II to measure treatment benefit of intrathecal idursulfase. Treatment with idursulfase and intrathecal idursulfase is associated with significantly higher individual and overall toileting skills versus treatment with idursulfase alone.

Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up.

A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient’s electronic health records.

164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis.

Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia.

Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia.Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequencing of an adolescent male with progressive movement disorder, spasticity and neurodegeneration, and previous non-diagnostic plasma very-long chain fatty acid analysis, revealed a homozygous likely pathogenic missense variant in PEX3 [c.991G > A; p.(Gly331Arg)]. A younger sibling with significant motor decline since the age of three years was also subsequently found to be homozygous for the familial PEX3 variant. A comprehensive review of the scientific literature identified three additional families with non-lethal infantile- or childhood-onset PEX3-related disease, which together with this clinical report illustrate the potential for highly variable disease severity. Our findings demonstrate the diagnostic utility of genome-wide sequencing for identifying clinically and biochemically heterogeneous inherited metabolic disorders such as the peroxisome biogenesis disorders.Gaucher disease type 1 (GD1) is the most common lysosomal storage disease and affects nearly 1 in 40,000 live births. In addition, it is the most common genetic disorder in the Ashkenazi Jewish population with phenotypic variation presenting in early childhood to asymptomatic nonagenarians. There have been a number of studies showing an increased risk of certain malignancies in patients, especially non- Hodgkin’s lymphoma (NHL) and multiple myeloma. We describe a 66-year-old Ashkenazi Jewish male with GD1 who was first started on enzyme replacement therapy (ERT) with imiglucerase for GD1 at age 57 years, followed a year later by the diagnosis of diffuse large b-cell non-Hodgkin’s lymphoma (DLBCL). He was treated with R-CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone, plus the monoclonal antibody rituximab), however relapsed and developed myelodysplasia necessitating an allo-stem-cell transplantation but succumbed to severe graft vs. host disease. In addition, we also describe a 38-year-old Ashkenazi Jewish male with GD1 who was diagnosed with DLBCL at age 22 years with Gaucher disease diagnosed on pre-treatment bone marrow biopsy which was confirmed by enzyme assay and genotyping. At age 24 years, he was started on ERT with imiglucerase and at age 35 years, he switched to eliglustat. He has remained in remission from the lymphoma. A meta-analysis of the literature will be elaborated upon and we will discuss the relationship of GD1 to NHL and discuss more recent information regarding lyso-GL1 and the development of NHL and multiple myeloma.

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-term enzyme replacement therapy (ERT) for adult patients with the attenuated form of MPS I (Scheie syndrome) and cardiac involvement.

We retrospectively reviewed four adult patients of Scheie syndrome for which ERT was performed in our hospital. We investigated the findings of electrocardiography and echocardiography for the four patients performed before and 10years after the initiation of ERT to evaluate the efficacy for ERT in Scheie syndrome.

The ages of the patients at the initiation of ERT ranged from 26 to 46years. The mean follow-up period was 129months (121 to 134months). Two patients underwent valve replacement surgery before the initiation of ERT. One patient had gradual progressive aortic valve stenosis and mitral valve stenosis during the course of ERT, and double valve replacement was finally performed. The patient who had started ERT at the youngest age did not develop significant cardiovascular disease. Regarding clinical courses with ERT for a period of 10years, all four patients survived and they showed relatively stable cardiac conditions although two patients developed sick sinus syndrome after the valvular surgery.

Valvular disease in patients with Scheie syndrome occur at a young age. In a limited number of the four patients, ERT might contribute the stability of cardiac condition.

Valvular disease in patients with Scheie syndrome occur at a young age. In a limited number of the four patients, ERT might contribute the stability of cardiac condition.Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may be autosomal dominant or recessive, and the phenotypic spectrum, including age of onset, varies widely. We present four families demonstrating both modes of inheritance of HPP and phenotypic variability and discuss the resultant challenges in disease management, genetic counseling, and risk assessment. Failure to consider different modes of inheritance in a family with HPP may lead to an inaccurate risk assessment upon which medical and reproductive decisions may be made. We highlight the essential role of high-quality genetic counseling and meaningful biochemical and molecular testing strategies in the evaluation and management of families with HPP.The rs2229611 SNP (G6PCc.*23T>C) in the 3’UTR region of the G6PC gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations. Herein, a group of Brazilian patients (n = 116) was analyzed by NGS and the frequency of rs2229611T>C was determined. The linkage disequilibrium (LD) between pathogenic variants and the rs2229611T>C SNP was evaluated. The results showed that the rs2229611T>C is associated to GSD Ia and is in LD with the most frequent pathogenic variants in Brazilian patients with GSD Ia.

To provide strategies for monitoring and treating severe lung involvement in Gaucher disease.

We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448T>C, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17months old. He developed respiratory distress symptoms after 45months of ERT; chest imaging reported diffuse interstitial infiltration of the bilateral lungs and consolidations at the right lungs. Allogeneic HSCT using cells from a matched unrelated donor was performed four months upon progressive respiratory symptoms.

His respiratory symptoms subsided in one month; chest imaging improvement, pulmonary function test improvement, and normalized activity of β-glucocerebrosidase were reported in three months.

This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered.

This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered.We report a rare presentation of Pott’s disease caused by M. bovis, suggesting transmission from infected cattle, and only the second case described so far in scientific reports. Noteworthy of this case was that the strain was only isolated on Stonebrink medium, a sodium pyruvate-containing culture medium for the isolation of mycobacteria. This medium is frequently ignored in diagnostic laboratories and in the laboratory manuals of most international health organizations. In general laboratories use a culture medium that contains glycerol, a carbon substrate considered inhibitory for the growth of M. bovis. The use of glycerol-containing medium therefore likely contributes towards underestimating zoonotic tuberculosis. Our case suggests that, in order to improved surveillance efforts for zoonotic TB and increase the notification rate for M. bovis to human TB, the use of pyruvate-containing media should be promoted, particularly in developing countries with a high prevalence of bovine TB, but also through the World Health Organization’ (WHO) End TB Strategy and the Roadmap for Zoonotic TB.Surface-enhanced fluorescence (SEF) is rapidly becoming one of the main spectroscopic techniques for the detection of a variety of biomolecules and biomarkers. The main reasons for this trend are the high sensitivity and selectivity, robustness, and speed of this analytical method. Each year, the number of applications that utilize this phenomenon increases and with each such work, the complexity and novelty of the used substrates, procedures, and analytes rises. To obtain a clearer view of this phenomenon and research area, we decided to combine 76 valuable research articles from a variety of different research groups into this mini-review. We present and describe these works concisely and clearly, with a particular interest in the quantitative parameters of the experiment. These sources are classified according to the nature of the analyte, on the contrary to most reviews, which sort them by substrate nature. This point of view gives us insight into the development of this research area and the consequent increase in the complexity of the analyte nature. Moreover, this type of sorting can show possible future routes for the expansion of this research area. Along with the analytes, we can also pay attention to the substrates used for each situation and how the development of substrates affects the direction of research and subsequently, the choice of an analyte. About 108 sources and several interesting trends in the SEF research area over the past 25 years are discussed in this mini-review.There is evidence of underperformance of the Global Health Indicators, particularly in the WHO Afro-region. Yet, quality, effective healthcare delivery, and access to information about best practice remains a challenge to nurses and midwives in the WHO Afro-region. For nurses and midwives to have the capacity to practice safely and competently they need to engage in mandatory Continuing Professional Development (CPD). However a composite picture is not available for future project planners, researchers, and policy developers. Published literature from the past five years and professional body webpages were searched. The results of shining a light on the WHO Afro-region member states’ CPD status revealed strengths, weaknesses, opportunities, and threats. The strengths lay in the beginnings of mandatory CPD and annual licensure renewal, while the weaknesses revealed inequity of CPD distribution across the region. The opportunities showed international academic partnership with possibilities for further engagement, and the threats were evident in the health context of the Afro-region, the shortage of nurses and the lesser participation of nurses in CPD programs. The illumination of the CPD status in the Afro-region suggests that a revised CPD landscape is necessary to strengthen the relevance and response capacity of nurses and midwives, as key contributors towards the Global Health Indicators.

To quantify the effects of the systematic internal and external femoral component rotations and tibial slope on the medial and lateral tibiofemoral gaps in total knee endoprostheses.

Nineteen knee cadaver specimens with an intact ligament apparatus were fixed in a custom frame, facilitating physiological flexion motion. Virtual total knee arthroplasty (TKA) was performed on three-dimensional models obtained from computed tomography​scans (0° and 90° flexions) with systematically altered femur rotations and tibial slopes.

Both the femur rotation and the tibial slope influenced the medial and lateral tibiofemoral flexion gaps (

​<​0.001), and the effects differed between the medial and lateral sides (

​<​0.001). The medial tibiofemoral flexion gap increased by 2.90​±​0.34​mm and decreased by 2.66​±​0.26​mm for 7° external and internal femur component rotations, respectively (both with

​<​0.001). The lateral tibiofemoral flexion gap decreased by 3.11​±​0.31​mm and increased by 3.29​±​0.33​mm fal femoral component rotation. While in lower leg extension there are no differences seen, in 90° knee-flexion there are unequal differences within the medial and lateral compartment that show a mathematical relationship towards the femoral compartment rotation which needs to be intraoperatively considered.

The article points out the differences in the tibiofemoral gap in total knee endoprostheses due to the systematic internal and external femoral component rotation. While in lower leg extension there are no differences seen, in 90° knee-flexion there are unequal differences within the medial and lateral compartment that show a mathematical relationship towards the femoral compartment rotation which needs to be intraoperatively considered.

The vertebral endplate (VEP) was damaged after spinal instability induced by cervical muscle section (CMS). Whether CMS induces bone formation and mechanical loading change in the vertebra is still obscure. This study was aimed to explore mechanical loading change and endplate damage after CMS.

Forty-eight rats were randomly divided into the CMS group and the sham group. The C6/7 segments were harvested at 4, 8, and 12 weeks after surgery. The microarchitectures of the C6 vertebra​and the vertebral endplate lesions and intervertebral disc height of C6/7 were measured by micro-computed tomography. Micro-finite element analysis was used to evaluate biomechanical properties of the C6 vertebra. Bone remodelling of the C6 vertebra​and the endplate​sclerosis and intervertebral disc degeneration of C6/7 were evaluated by histological and immunohistochemical analyses.

CMS significantly induced bone formation of the C6 ventral vertebra​and increased the biomechanical properties of mainly the ventral side at 4 wentervertebral disc degeneration induced by spinal instability. This may help to elucidate the mechanisms by which disc degeneration occur.

Our study indicates that vertebral trabecular changes may involve in intervertebral disc degeneration induced by spinal instability. This may help to elucidate the mechanisms by which disc degeneration occur.

To enhance the bioactivity of polyetheretherketone (PEEK) while maintain its mechanical strengths.

Suspension coating and melt bonding.

Silicon nitride (Si

N

, SN) coating lead to higher surface roughness, hydrophilicity and protein absorption; SN coating could slowly release Si ion into simulated body fluid (SBF), which caused weak alkaline of micro-environment owing to the slight dissolution of SN; SN coating resulted in the improvements of adhesion, proliferation, differentiation and gene expressions of MC3T3-E1 cells

; SN coating of PEEK with bioactive SN coating (CSNPK) obviously promoted bone regeneration and osseointegration

.

CSNPK with SN coating as bone implant might be a promising candidate for orthopedic implants.

The silicon nitride-coated polyetheretherketone (CSNPK) prepared in this article could induce MC3T3-E1 cells adhesion, proliferation and differentiation

; it could also induce bone regeneration in bone defect

, which indicate its good cytocompatibility and biocompatibility. If the raw materials are medical grade, and preparation process as well as production process of this article are further improved, it will have great translational potential.

The silicon nitride-coated polyetheretherketone (CSNPK) prepared in this article could induce MC3T3-E1 cells adhesion, proliferation and differentiation in vitro; it could also induce bone regeneration in bone defect in vivo, which indicate its good cytocompatibility and biocompatibility. If the raw materials are medical grade, and preparation process as well as production process of this article are further improved, it will have great translational potential.

Residual hip dysplasia is the most common underlying condition leading to secondary osteoarthritis (OA) of the hip. Subchondral bone alterations in OA secondary to hip dysplasia (HD-OA) are poorly investigated. The aim of the present study was to analyse the microarchitecture, bone remodelling and pathological alterations of subchondral bone in femoral heads from patients with HD-OA.

Subchondral bone specimens were extracted from both weight-bearing and non-weight-bearing regions of femoral heads from 20 patients with HD-OA and 20 patients with osteoporotic femoral neck fracture, during hip replacement surgery. Micro-CT and histological examination were performed to assess the microarchitecture and histopathological changes.

The weight-bearing subchondral bone showed significantly more sclerotic microarchitecture and higher bone remodelling level in HD-OA as compared with osteoporosis. In the non-weight-bearing region, the two diseases shared similar microarchitectural characteristics, but higher bone remodelling level was detected in HD-OA.