Proteus mirabilis is a specific opportunistic pathogen of many infections including urinary tract (UTIs). Risk factors are linked with the acquisition multidrug-resistant (MDR) to 3 or more classes antimicrobials) strains. The resistance in extended-spectrum alpha-lactamase rare, but rising beta-lactamase (ESBL) producing strains matter concern. ?-lactamases and antibiotic modifying enzymes mai...

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This neurodevelopmental disorder presenting neurological dysmorphic feature including intellectual disability, limb craniofacial abnormalities. We present case of TBCK mutation variant (p.Gln164*), on Exon 6; ...

Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) may present with different clinical manifestations. A mutation in the PTCH gene, involved Gorlin-Goltz syndrome, could be associated pathogenesis of this neoplasm. We describe case 7-year-old girl multiple papules on her face.

Hydatidiform moles are the most common type of gestational trophoblastic neoplasia. Hyperproliferative vesicular trophoblasts and imperfect fetal development abnormal pregnancies, recurrent hydatidiform rare. Mutations in NLRP7 responsible for mole. Genetic heterogeneity has been demonstrated patients with mutation. This study presents our case gravida 11, parity 0, histopathologically diagnose...

Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets), identified a somatic, activating mutation in PDGFRB, along with amplification of PD...

We report the case of a Japanese family suffering from familial juvenile hyperuricemic nephropathy (FJHN) due to a rare missense mutation of the uromodulin (UMOD) gene. An 18-year-old male presented with gout, hyperuricemia, and stage 3 chronic kidney disease. Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. However, in the present case, a T688C m...

Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intes...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

huntingtons disease is caused by a dominantly transmitted cag repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. huntingtons disease patients with two mutant alleles are very rare. in other poly (cag) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes. in our evaluation, ...

CYP21A2 mutation is the major cause of Congenital Adrenal Hyperplasia (CAH) resulted from the defect in 21-hydroxylase. In this study, we reported a patient of CAH with an unusual mutation of CYP21A2 gene. This patient was a six-year-old girl admitted to Huai’an First People’s Hospital for surgery because of malformation of external genitalia. DNA sequence analysis of CYP21A2 revealed the compo...