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1.
Am J Med Genet A ; 170A(5): 1343-6, 2016 May.
Article in English | MEDLINE | ID: mdl-26854214

ABSTRACT

Vici syndrome is a rare congenital disorder first described in 1988. To date, 31 cases have been reported in the literature. The characteristic features of this syndrome include: agenesis of the corpus callosum, albinism, cardiomyopathy, variable immunodeficiency, cataracts, and myopathy. We report two Hispanic sisters with genetically confirmed Vici syndrome who both developed Idiopathic Thrombocytopenic Purpura. To our knowledge, this is an immunologic process that has been previously undescribed within the phenotype of Vici syndrome and should be added to the spectrum of variable immune dysregulation that can be found in these patients.


Subject(s)
Agenesis of Corpus Callosum/genetics , Cataract/genetics , Proteins/genetics , Purpura, Thrombocytopenic, Idiopathic/genetics , Agenesis of Corpus Callosum/complications , Agenesis of Corpus Callosum/physiopathology , Autophagy-Related Proteins , Cataract/complications , Cataract/physiopathology , Codon, Nonsense , Corpus Callosum/growth & development , Corpus Callosum/physiopathology , Female , Humans , Infant , Infant, Newborn , Lysosomal Membrane Proteins , Purpura, Thrombocytopenic, Idiopathic/complications , Purpura, Thrombocytopenic, Idiopathic/physiopathology , Vesicular Transport Proteins
2.
Acad Forensic Pathol ; 6(3): 524-531, 2016 Sep.
Article in English | MEDLINE | ID: mdl-31239926

ABSTRACT

Suicide by individuals under 18 years of age is a tragic reality of society. To assess local trends and demographics, we retrospectively reviewed all pediatric cases referred to our institution from 1988-2014 (27 years). Pediatric cases were defined as individuals younger than 18 years of age. The incidence of reported suicides declined from 3.8 cases per year to 2.4 cases per year as compared to observations at our institution over a previous ten-year period (1988-1998). In concert with the overall decrease in cases were increases in the proportion of adolescents younger than 15 and the female demographic. Furthermore, a shift in suicidal methodology was noted, with an increase in suicide by hanging. Indeed, for females, hanging became the most common suicide modality, replacing firearms. Our findings are congruent with national trends and underline the need for global suicide preventive interventions targeted toward increasingly younger adolescents and females.

3.
J Assoc Physicians India ; 59: 523-4, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21887915

ABSTRACT

We report two cases, the first one a 35 years old male, chronic alcoholic, and the other, a 15 years old boy, who presented to us with fever, Rt. hypochondrial pain, with USG-Abdomen revealing multiple liver abscesses in the first, and a single large abscess in the second. Both patients showed leucocytosis and, mildly deranged Liver Function Tests. Aspirated pus was sterile, and the patients did not show any clinical improvement despite broad spectrum antibiotics and amoebicides. Re-aspiration of pus after two weeks revealed the presence of Mycobacterium tuberculosis and both patients showed a dramatic improvement clinically after starting Anti-tubercular treatment. These cases are being reported because of the rarity of tubercular liver abscesses, and the importance of suspecting mycobacterial infection in patients of liver abscess not responding to conventional treatment.


Subject(s)
Liver Abscess/diagnostic imaging , Liver Abscess/microbiology , Mycobacterium tuberculosis/isolation & purification , Tuberculosis, Hepatic/diagnosis , Adolescent , Adult , Antitubercular Agents/therapeutic use , Drainage , Humans , Immunocompromised Host , Liver Abscess/drug therapy , Liver Function Tests , Male , Treatment Outcome , Tuberculosis, Hepatic/drug therapy , Ultrasonography
4.
Reproduction ; 127(3): 343-57, 2004 Mar.
Article in English | MEDLINE | ID: mdl-15016954

ABSTRACT

The present study investigated regional modifications of glycosylation status, sperm association and functional significance of N- and O-linked glycoproteins in epididymal luminal fluid of the rhesus monkey (Macaca mulatta). The predominant glycoproteins of the epididymal luminal fluid that increase in the extent of glycosylation or unmasking of exposed epitopes in a region-specific, maturation-dependent manner, included those of 150, 116, 68, 64, 58 (N- and O-linked) and 170 kDa (O-linked). The higher expression of 40 (N-linked), 38 (N- and O-linked) and 60, 56 and 33 kDa (O-linked) glycoproteins in the proximal caput epididymal fluid was followed by alteration or reorganization of 60, 38 and 33 kDa (O-linked) glycoproteins in the distal segments of the epididymis. The association of epididymal fluid glycoproteins with maturing spermatozoa was identified by generating polyclonal antiserum against monkey caudal sperm membrane in female albino rabbits. The antiserum crossreacted strongly with 58 and 33 kDa epididymal fluid glycoproteins of monkeys and also reacted with 116, 68, 58, 56 and 33 kDa glycoproteins from Triton X-100 extracts of human spermatozoa, indicating the presence of antigenically related components in both species. The functional significance of epididymal fluid glycoproteins in sperm functions was investigated by raising antiserum against a heavily glycosylated 58 kDa glycoprotein (MEF1) of caudal epididymal fluid, which crossreacted with the Triton X-100 extracts of epididymal spermatozoa of monkey and ejaculated human spermatozoa on immunoblots. In an in vitro micro-sperm agglutination assay, anti-MEF1 serum agglutinated both rat caudal epididymal spermatozoa and human spermatozoa. MEF1 seemed to be involved in fertilization as demonstrated by inhibition of fertility (100%) in female albino rabbits and rats immunized with this protein. A sperm-agglutinating 58 kDa glycoprotein of rhesus monkey epididymis with functional significance in fertility was identified, thus indicating that it is a potential candidate for contraceptive vaccine development.


Subject(s)
Glycoproteins/analysis , Semen/metabolism , Spermatozoa/physiology , Animals , Electrophoresis, Polyacrylamide Gel/methods , Epididymis , Female , Fertility , Glycosylation , Humans , Immune Sera/pharmacology , Immunoblotting/methods , Lectins , Macaca mulatta , Male , Microscopy, Phase-Contrast , Molecular Weight , O Antigens/analysis , O Antigens/immunology , Rabbits , Rats , Sperm Agglutination , Sperm-Ovum Interactions
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