Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.

Background: Oculocutaneous albinism (OCA) is a group of skin depigmentation disorders. Clinical presentation of OCA includes defects in melanocyte differentiation, melanin biosynthesis, and melanosome maturation and transport.

Objectives: A molecular diagnostics study of families presenting oculocutaneous albinism.

Superficial Circumflex Iliac Artery Free Flap for Coverage of Hand Injuries.

Open de-gloving hand injuries with exposed tendons and bones require coverage by a flap. Conventionally used groin or abdominal flaps are cumbersome to patients due to extensive dressing and prolonged passive positioning of the hand until pedicle division. Superficial circumflex iliac artery (SCIA) flap is evolved from a traditional groin flap, and because of its thinness, pliability, and concealed donor site, it is an ideal option for single-stage reconstruction of traumatic hand defects avoiding discomforting passive hand position, joint stiffness, and unexpected flap avulsion which were associated with traditional groin flap.

ALTERING THE MARKING OF THE REVERSE POSTERIOR INTEROSSEOUS ARTERY FLAP.

Background: Full-thickness defects on the dorsum of the hand requires thin, soft, and pliable skin for which there are limited locoregional flaps. The reverse posterior interosseous artery (PIA) flap based on the communicating artery fulfills all above requirements and can reach upto the fingers. However, there has been discrepancy in the surface marking of the flap and the anatomical position of the vessel pedicle.

Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.

Background: Amyloidosis cutis dyschromica (ACD) is a rare variant of cutaneous amyloidosis. This disorder often clusters in families, and it has been suggested that genetic factors might be involved in its development.

Objective: To identify the genetic causes of ACD, we recruited a consanguineous Pakistani family with multiple cases of ACD that display a recessive mode of inheritance.

Medial Plantar Artery Perforator Flap: Experience with Soft-tissue Coverage of Heel.

Background: Soft-tissue coverage is a challenge to the ankle and foot reconstructive surgeon due to its unique requirement of simultaneously withstanding body weight and to provide sensory feedback. We share our experience of medial plantar artery perforator (MPAP) flap, which provides a robust sensate coverage to heel defects.

Methods: Three-year retrospective study, which included soft-tissue injury to heel.

Hydroxylated graphene-based flexible carbon film with ultrahigh electrical and thermal conductivity.

Graphene-based films are widely used in the electronics industry. Here, surface hydroxylated graphene sheets (HGS) have been synthesized from natural graphite (NG) by a rapid and efficient molten hydroxide-assisted exfoliation technique. This method enables preparation of aqueous dispersible graphene sheets with a high dispersed concentration (∼10.

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Background: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.

Methods: The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family.

Treatment of unstable intraarticular fracture of distal radius: POP casting with external fixation.

Objective: To compare radiological and functional outcome of external fixation and distraction with conservative Plaster of Paris (POP) cast for unstable intra-articular fractures of the distal radius.

Methods: The study was conducted on 60 patients with unstable intra-articular fracture of distal radius who reported to emergency or outpatient Orthopaedic Surgery department of Benazir Bhutto Hospital, Rawalpindi, between March and August 2007. They were divided into two equal groups: Group A and Group B, treated by Plaster of Paris cast, and external fixation with distraction respectively.

Anterior surgical interventions in spinal tuberculosis.

Objective: To evaluate and compare the effectiveness of the modified Hong Kong procedure performed with and without additional instrumentation, in terms of improvement in neurological and kyphotic disabilities in spinal tuberculosis.

Study Design: Quasi-experimental study.

Place And Duration Of Study: Department of Orthopaedic Surgery, Rawalpindi General Hospital, Rawalpindi, from June 1999 to May 2006.

Prevalence rate of Down's syndrome in Karachi resident women.

Prevalence rate of Down's syndrome in one thousand women of Karachi were evaluated. The preliminary screening showed that 80 out of 1000 women fall in this category based on MSAFP. Further tests were augmented such as hCG, ME along with MSAFP confirmed that 0.

Effects of socioeconomic factors, psychological stress, smoking, alcohol and caffeine on preterm delivery.

The relation between preterm birth and socioeconomic and psychological factors, smoking, alcohol and caffeine consumption are studied. Gestational age was determined from ultrasound and maternal dates. Adverse social circumstances are associated with preterm birth which inturn effects fetal growth.