Lost Connection: A Case Report of Interrupted Pituitary Stalk Syndrome.

Pituitary stalk interruption syndrome is a triad of thin (<1 mm) or complete absence of the pituitary stalk with either an aplastic or ectopic posterior lobe of the pituitary gland and a hypoplastic or absent anterior lobe of the pituitary. Patients present with growth retardation, short height, seizures, intellectual disability, and absence of sexual maturation at the expected time. Here, we presented a case of a 12-year-old male with stunted growth.

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome.

Precise genetic counseling and prenatal diagnosis are often hindered by incomplete penetrance of risk variance and complex patterns of inheritance. Here, we performed a clinical and genetic study of a five-generation Pakistani family with a history of multiple cases of childhood brain tumors. Six affected individuals died of brain tumors at very early ages and three were confirmed as having a homozygous mutation in exon 6 of the PMS2 gene (c.

Analysis of Host and Viral-Related Factors Associated to Direct Acting Antiviral Response in Hepatitis C Virus Patients.

Hepatitis C virus (HCV) signifies an important health issue as it is a globally prevalent pathogen and poses a great threat to human health. Direct antiviral therapy became a landmark in treatment against chronic HCV infection as they have proven to increase sustained virological response (SVR) rate, provide shortened and simplified regimens. This study aimed to evaluate efficacy of Sofosbuvir and classify factors of treatment success and their function in therapy continuation decision.

Corrigendum to "Metastatic hepatoid carcinoma of ovarian origin - A case report from Northern Pakistan" [Gynecol. Oncol. Rep. 21 (2017) 24-27].

[This corrects the article DOI: 10.1016/j.gore.

Metastatic hepatoid carcinoma of ovarian origin - a case report from northern Pakistan.

•Hepatoid carcinoma of the ovary is rapidly progressing rare epithelial ovarian tumor.•The term 'hepatoid' refers to the morphological resemblance with hepatocellular carcinoma.•Final diagnosis is made via positive staining for alpha fetoprotein along with immunohistochemistry•Combination chemotherapy can be considered superior over the targeted agents while treating this tumor.

Polyostotic Paget's disease.

Paget's disease of bone is a common metabolic bone disease in most of the European countries. The disease has distinct geographical distribution being rare in Asia. We report Paget's disease in a 70 years old Pakistani male who presented with history of pain in right leg with difficulty in walking for the last 5 months.