Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date: (MIM *609058), (MIM *607481, (MIM *607568), (MIM *611935), and (MIM *608419). Although iMMA is the most common form of organic acidemia reported in Mexico, its genotypic spectrum is still largely unknown.

Early clinical, histological, and immunohistochemical findings in suspected acute graft-versus-host disease and their association with patient outcomes.

Background/objectives: Acute graft-versus-host disease (aGVHD) is a serious condition after allogeneic hematopoietic stem cell transplantation (HSCT), frequently involving skin, gut, and liver. It can be difficult to diagnose early, yet this is vital for adequate management. We sought to identify initial clinical and histopathological features in children with suspected GVHD and the association with clinical course and outcomes.

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity.

Hepatorenal Tyrosinemia in Mexico: A Call to Action.

Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy. Its clinical diagnosis is difficult because of its low prevalence and heterogeneous symptoms. In developed countries, expanded newborn screening, based on succinylacetone quantification by tandem mass spectrometry, has been very valuable in the early detection of hepatorenal tyrosinemia, providing the opportunity for rapid treatment of affected patients.

Intestinal/Peritoneal tuberculosis in children: an analysis of autopsy cases.

Infection by Mycobacterium bovis is not infrequently identified in Mexico. Its relation to nonpasteurized milk products ingestion is well recognized with primary infection usually in the intestinal tract. The term "abdominal tuberculosis" includes peritoneal as well as primary and secondary intestinal tuberculosis.

Portopulmonary hypertension in children. A study in pediatric autopsies.

Background And Aims: The relative frequency and risk factors of portopulmonary hypertension in children have not been defined with precision. The few published reports refer to isolated cases or small series from selected populations. The development of pulmonary hypertension in patients with portal hypertension is seldom suspected or documented during life.

Experimental hemolysis model to study bilirubin encephalopathy in rat brain.

None of experimental models used to study the toxic effect of unconjugated bilirubin brain accumulation, reproduce the conditions in which the hyperbilirubinemia is a consequence of a hemolytic process, i.e. when important amounts of bilirubin and iron are released.

Video-assisted thoracoscopy for diaphragmatic plication: experimental study in a canine model.

Background: Plication of a nonfunctional hemidiaphragm usually restores altered ventilatory mechanics. This study compared two techniques in performing diaphragmatic plication: video-assisted thoracoscopy (group A) and thoracotomy (group B).

Materials And Methods: Twenty dogs with induced paralysis of the right hemidiaphragm were randomly assigned to one of the two groups.

[Clinicopathologic cases].

The clinicopathologic conference (CPC) was introduced by Dr. Richard C. Cabot at the Massachusetts General Hospital in the U.

Experimental induction of heterotopic bone in abdominal implants.

Induction of bone tissue requires three elements: osteoprogenitor cells, osteoinductive factors, and a supporting extracellular matrix. In this study, we report on an experimental model in dogs of heterotopic bone tissue production, based on the integration of these osteo-inductive factors into abdominal implants. The implants consist of either a type I collagen sponge wrapped with periosteum and omentum or a type I collagen sponge embedded with demineralized bone powder, platelet-rich plasma, thrombin, and calcium chloride wrapped with omentum, with or without periosteum.