Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).

We describe a male patient with a novel TTI2 variant, which has not been previously associated with a human phenotype. His features include intellectual disability, primary microcephaly, delayed psychomotor development, speech delay, short stature, dysmorphic facial features, esotropia, kyphoscoliosis, and behavior abnormalities (Figure). Next generation sequencing revealed autosomal recessive TTI2 variant with uncertain significance, denoted as c.

The mid-term and long-term effects of tourniquet use in total knee arthroplasty: systematic review.

Purpose: A tourniquet is routinely used during total knee arthroplasty (TKA) to reduce intra-operative hemorrhage, though surgery without a tourniquet is becoming popular. To address concerns about the effect of blood at cement interfaces on long-term implant stability, we conducted a systematic review among patients undergoing total knee arthroplasty to determine if TKA with a tourniquet, compared to TKA without a tourniquet or with reduced tourniquet duration, is associated with better mid-term and long-term implant stability.

Methods: A literature search was conducted without language restriction in PubMed, Cochrane database and Web of Science from conception to 17th March, 2021.

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Objective: To identify the phenotypic, neuroimaging, and genotype-phenotype expression of mutations.

Methods: Using next-generation sequencing, we screened 86 patients with primary familial brain calcification (PFBC) from 60 families with autosomal recessive or absent family history that were negative for mutations in , , , and . In-depth phenotyping and neuroimaging investigations were performed in all cases reported here.