Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.

Introduction: Type 3 von Willebrand disease (VWD), a severe autosomal recessive hereditary bleeding disorder, is described by the virtual absence of von Willebrand factor (VWF). In consanguineous populations, for example Pakistan, the disease is reported with a higher incidence rate than the worldwide prevalence.

Aims: This study aims to characterize molecular pathology and clinical profile of type 3 VWD cohort of Pakistani origin.

ATG vs thiotepa with busulfan and cyclophosphamide in matched-related bone marrow transplantation for thalassemia.

Matched-related bone marrow transplantation (BMT) may cure >80% of low-risk children with severe thalassemia (ST). Very long-term follow-up studies have shown how the standard busulfan-cyclophosphamide (BuCy) regimen may be associated with normalization of health-related quality of life, no second malignancies in the absence of chronic graft-versus-host disease, and fertility preservation in many patients. However, because BuCy may be associated with high rejection rates, some centers incorporate thiotepa (Tt) in busulfan- or treosulfan-based regimens, a combination that may increase the risk of permanent infertility.

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions.

Background: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured.

Clinical Indications and Adverse Reactions of Platelet Apheresis.

Objective: To determine the clinical indications and adverse reactions of platelet apheresis procedure.

Study Design: Cross-sectional, observational study.

Place And Duration Of Study: Blood Bank of Pakistan Atomic Energy Commission General Hospital, Islamabad, from January 2010 to December 2014.

Optical diagnosis of malaria infection in human plasma using Raman spectroscopy.

We present the prediction of malaria infection in human plasma using Raman spectroscopy. Raman spectra of malaria-infected samples are compared with those of healthy and dengue virus infected ones for disease recognition. Raman spectra were acquired using a laser at 532 nm as an excitation source and 10 distinct spectral signatures that statistically differentiated malaria from healthy and dengue-infected cases were found.

Combined persistent Mullerian Duct Syndrome, Transverse Testicular Ectopia and Mosaic Klinefelter's Syndrome.

Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudohermaphroditism, is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in otherwise normallyvirilized males (Karyotype 46XY). Patients suffering from PMDS present with cryptorchidism, inguinal hernia and infertility. Diagnosis is established when Mullerian duct structures are discovered either during ultrasonography for localization of undescended testis(s), during surgical exploration for cryptorchidism or herniorrhaphy (hernii uteri inguinalis).