Isolable Geminal Bisgermenolates A fresh Synthon throughout Organometallic Hormone balance

Prevalence of pelvic ectopic kidney with obstruction is not common. Associated anomalies may produce technical difficulties and surgical challenges in treatment. Diagnostic tools such as USG KUB, renal scintigraphic studies (DMSA, DTPA), MRI, and preoperative RGP are very informative examinations to properly decide the timing of the operation and method of it. The patient was under close surveillance from the detection of antenatal hydronephrosis until the development of UPJ obstruction. Herein, we report the case of a patient with this anomaly who successfully underwent laparoscopic reconstruction.Herpes zoster-associated urinary retention is a rare but acknowledged phenomenon. It is usually a bladder areflexia resulting from a viral infection in the sacral dermatomes. We describe a 57-year-old immunosuppressed male patient with delayed urinary retention, following an outbreak of shingles in the setting of supratherapeutic immunosuppressive medications and poorly-controlled diabetes mellitus. The patient received a foley catheter, failed a trial of void in the acute treatment setting, completed zoster treatment with antivirals and corticosteroids, and fully recovered bladder function 6 weeks later.The endometriosis in the Canal of Nuck is a rare condition. Most patients exhibited groin swelling but this case present with a rare condition which is suprapubic pain for 2 years. This case is a 34-year-old healthy woman had developed chronic intermittent right suprapubic pain for 2 years. Physical examination revealed a 2-cm. Reducible mass at right suprapubic area. MRI was performed and the result showed a 2.7 × 1.3 × 4.9 cm-size multiloculated cystic mass located near the round ligament of the uterus which was consistent with a Nuck's canal cyst. The definitive treatment was done by excision of mass.Teratomas are neoplasms commonly arising from the gonads. Kidney is one of the rare sites of origin of the tumor. Immature intra renal teratoma is even more rare and to date only 4 cases have been reported in the literature. We report a rare case of renal immature teratoma diagnosed in a 6 months old female patient, discuss its pathology and review relevant literature.
A case of a 57 years old woman came with the chief complaint of urinary incontinence since 20 years ago. After labor, she complained of urinary incontinence and left untreated. Physical examination and urethrocystoscopy revealed vaginal stone sized 90×70 mm and urethrovaginal fistula. We performed hysterectomy and vaginal stone removal, continued with fistula closure and vaginal repair. Up to 2 months follow up, no sign of urinary leakage and incontinence was found.
Vaginal stone is a rare Case that might be present in a case of long term urethrovaginal fistula with neglected contraceptive device.
Vaginal stone is a rare Case that might be present in a case of long term urethrovaginal fistula with neglected contraceptive device.A very rare tumor is the combined Mixed Germ cell tumors (GCT) such as testicular non-seminomatouswith somatic malignancy (rhabdomyosarcoma). Here we present a case of a 19-year-old boy with non-seminomatous GCT combined with somatic malignancy (rhabdomyosarcoma) and retroperitoneal mass. The case was managed with radical orchidectomy on the affected side (left side). The patient then admitted for chemotherapy, but unfortunately, he was getting worse and died.Primary bladder amyloidosis is rare. see more Hematuria is the most common form of it's revelation. There are no specific clinical and paraclinical signs to differentiate it from urothelial tumors. The diagnosis is histological. We are reporting you a case of incidental discovery.AARS1 deficiency belongs to the group of disorders affecting aminoacyl-tRNA synthetases. To date, AARS1 deficiency has only been linked to neurologic disorders. We report a 6-year-old girl with microcephaly and developmental delay who presented with repeated episodes of acute liver failure. Whole-exome sequencing revealed compound heterozygosity for two missense variants within the AARS1 gene, p.[Leu298Gln];[Arg751Gly]), whose functional relevance was demonstrated by decreased enzymatic activity in fibroblasts. This is the first report that shows that AARS1 variants may be associated with recurrent acute liver failure.Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase). To date, there is no approved treatment for the neurological manifestations of the disease. The role of Ambroxol as a chaperone for mutant GCase has been extensively demonstrated in vitro. Furthermore, different authors have reported beneficial effects of high doses of Ambroxol on neurological manifestations in patients affected by GD. In this report, we describe the in vitro and in vivo effects of Ambroxol in two patients (P1 and P2) affected by the neurological form of GD and epilepsy, carrying mutations already reported as responsive to the chaperone. Indeed, P1 presented the N188S mutation in compound heterozygous with a null allele (IVS2 + 1G > A) and P2 was homozygous for the L444P mutation. As expected, a beneficial effect of Ambroxol was observed in cultured fibroblasts as well as in vivo, both on epilepsy and on biomarkers of GD, in P1. However, Ambroxol was completely undefective in P2, suggesting that other factors besides the GBA1 mutation itself would be involved in the response therapy which would be difficult to predict based on the patient genotype. The present report expands the experience of Ambroxol treatment in neurological GD patients and highlights the need to in vitro test the individual response to Ambroxol even in patients carrying mutations already classified as responsive to the chaperone.The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity Arts syndrome (OMIM 301835), Charcot-Marie-Tooth disease type 5 (CMTX5, OMIM 311070), and nonsyndromic X-linked deafness (DFN2, OMIM 304500). Hearing loss is present in all cases. CMTX5 patients also show peripheral neuropathy and optic atrophy. Arts syndrome includes developmental delay, intellectual disability, ataxia, and susceptibility to infections, in addition to the above three features. Gain-of-function PRPS1 variants result in PRPS superactivity (OMIM 300661) with hyperuricemia and gout. We report a 6-year-old boy who presented with marked generalized muscular hypotonia, global developmental delay, lack of speech, trunk instability, exercise intolerance, hypomimic face with open mouth, oropharyngeal dysphagia, dysarthria, and frequent upper respiratory tract infections.