Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

BACKGROUND: Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnormalities such as ptosis, strabismus, and oculomotor apraxia have been reported in half of the patients. Wieacker-Wolff syndrome female-restricted (WRWFFR) is an even rarer disease recently used for females with a more severe phenotype. MATERIALS AND METHODS: Clinical geneticist and ophthalmic examination, neuroimaging, and exome sequencing. RESULTS: A 4 years-old girl with developmental and language delay, microcephaly, camptodactyly, digital pads, and arthrogryposis was identified by the clinical geneticist. Ophthalmic examination revealed deep-set eyes, high hyperopic astigmatism in both eyes, and reduced retinal nerve fiber layer thickness measured by optical coherence tomography. Exome sequencing identified a novel, probably pathogenic variant in the ZC4H2 gene NM_018684.3:c.145A>T p. (Lys49*) in heterozygosis. DISCUSSION: WRWFFR is an ultra-rare disease with X-linked inheritance by variants in the ZC4H2 gene. This case reports a girl with a novel nonsense variant in the ZC4H2 gene and a severe phenotype; previous reports have identified WRWFFR in females with large deletions and nonsense mutations which could explain the manifestations in the current case report. A complete ophthalmic examination should be considered in patients with WRWFFR to detect the possibly associated optic nerve involvement and other previously described manifestations such as ptosis and strabismus.

Subaortic left brachiocephalic vein and real-time ultrasound-guided puncture.

We describe a subaortic left brachiocephalic vein, a congenital anomaly that can be suspected during the rapid central vein assessment before central venous catheterization. Since the vein descends vertically/obliquely rapidly from its origin, we suggest that the puncture should be made at a greater angle (50°-60°) than what is usually used to puncture this vein (20°-30°). Failure to identify this anomaly may cause a failed puncture or complications from the puncture of adjacent blood vessels.

Undifferentiated embryonal liver sarcoma: case report and review of the literature. / Sarcoma hepático embrionario indiferenciado: reporte de caso y revisión de la literatura.

BACKGROUND: Undifferentiated embryonal sarcoma of the liver accounts for 9-13% of malignant tumors in the pediatric age group, and is the third primary malignant neoplasm of the liver in children. However, few cases are reported in the literature. It may manifest with fever, weight loss, pain, and abdominal tumor sensation. In addition to pathology and immunohistochemistry, imaging studies are the appropriate tools for diagnosis. CASE REPORT: We present the case of a 6-year-old female patient diagnosed with undifferentiated embryonal sarcoma of the liver by surgery and subsequent biopsy results. CONCLUSIONS: When reviewing the literature, we found that this type of malignant neoplasm is not frequent in children. However, it is important to consider this type of tumor as a cause in those cases of hepatomegaly in the pediatric age.

INTRODUCCIÓN: El sarcoma hepático embrionario indiferenciado representa el 9-13% de los tumores hepáticos malignos en la edad pediátrica y es la tercera neoplasia maligna primaria de hígado en la infancia. Sin embargo, son pocos los casos reportados en la literatura. Se puede manifestar con fiebre, pérdida de peso, dolor y sensación de tumor abdominal. Los estudios de imagen, además de los estudios anatomopatológico e inmunohistoquímico, son las herramientas adecuadas para el diagnóstico. CASO CLÍNICO: Se presenta el caso de una paciente de 6 años de edad con diagnóstico de sarcoma hepático embrionario indiferenciado mediante cirugía y posterior resultado de la biopsia. CONCLUSIONES: Al revisar la literatura se encontró que este tipo de neoplasia maligna no es frecuente en la infancia. Sin embargo, es importante considerar este tipo de tumor como causa en aquellos casos de hepatomegalia en la edad pediátrica.

Zinc-chelating postsynaptic density-95 N-terminus impairs its palmitoyl modification.

Chemical synaptic transmission represents the most sophisticated dynamic process and is highly regulated with optimized neurotransmitter balance. Imbalanced transmitters can lead to transmission impairments, for example, intracellular zinc accumulation is a hallmark of degenerating neurons. However, the underlying mechanisms remain elusive. Postsynaptic density protein-95 (PSD-95) is a primary postsynaptic membrane-associated protein and the major scaffolding component in the excitatory postsynaptic densities, which performs substantial functions in synaptic development and maturation. Its membrane association induced by palmitoylation contributes largely to its regulatory functions at postsynaptic sites. Unlike other structural domains in PSD-95, the N-terminal region (PSD-95NT) is flexible and interacts with various targets, which modulates its palmitoylation of two cysteines (C3/C5) and glutamate receptor distributions in postsynaptic densities. PSD-95NT contains a putative zinc-binding motif (C2H2) with undiscovered functions. This study is the first effort to investigate the interaction between Zn2+ and PSD-95NT. The NMR titration of 15 N-labeled PSD-95NT by ZnCl2 was performed and demonstrated Zn2+ binds to PSD-95NT with a binding affinity (Kd ) in the micromolar range. The zinc binding was confirmed by fluorescence and mutagenesis assays, indicating two cysteines and two histidines (H24, H28) are critical residues for the binding. These results suggested the concentration-dependent zinc binding is likely to influence PSD-95 palmitoylation since the binding site overlaps the palmitoylation sites, which was verified by the mimic PSD-95 palmitoyl modification and intact cell palmitoylation assays. This study reveals zinc as a novel modulator for PSD-95 postsynaptic membrane association by chelating its N-terminal region, indicative of its importance in postsynaptic signaling.

Invaginación íleo-colónica en un paciente adolescente con fibrosis quística / Ileocolonic intussusception in an adolescent patient with cystic fibrosis

La invaginación intestinal ocurre cuando un segmento proximal de intestino se repliega dentro de la luz de un segmento distal adyacente y provoca obstrucción intestinal. Es una causa común de abdomen agudo en los dos primeros años de la vida, pero raro en niños mayores. Un varón de 16 años, con diagnóstico de fibrosis quística, se presentó con un cuadro compatible con síndrome de oclusión intestinal distal. Consultó a la clínica con dolor abdominal y una masa palpable en el hipocondrio derecho. Se realizó ecografía abdominal y tomografía de abdomen contrastada, que demostraron invaginación íleo-colónica con signos de isquemia intestinal, necrosis y neumatosis de la pared intestinal. Fue intervenido: se realizó resección del íleon terminal y hemicolon derecho, y se detectó una tumoración en ciego. La invaginación íleo-colónica es una causa rara de abdomen agudo en pacientes adolescentes con fibrosis quística y puede estar asociada a una causa orgánica subyacente.

Intestinal intussusception occurs when a proximal segment of the intestine telescopes into the lumen of an adjacent distal segment, causing intestinal obstruction. It is a common cause of acute abdomen in the first two years of life, but rare in older children. A 16-year-old male with a diagnosis of cystic fibrosis presented with symptoms compatible with distal intestinal occlusion syndrome. He came at the cystic fibrosis clinic with a 5-day evolution of abdominal pain and a palpable mass in the right hypochondrium. Abdominal ultrasound and abdominal contrasted tomography were performed demonstrating ileo-colonic invagination with signs of intestinal ischemia, necrosis and pneumatosis of the intestinal wall. He underwent surgery with resection of the terminal ileum and right hemicolon, ana tumor in the caecum was found. This is a rare cause of acute abdomen in young patients with cystic fibrosis and may be associated with an underlying organic cause.

[Ileocolonic intussusception in an adolescent patient with cystic fibrosis]. / Invaginación íleo-colónica en un paciente adolescente con fibrosis quística.

Intestinal intussusception occurs when a proximal segment of the intestine telescopes into the lumen of an adjacent distal segment, causing intestinal obstruction. It is a common cause of acute abdomen in the first two years of life, but rare in older children. A 16-year-old male with a diagnosis of cystic fibrosis presented with symptoms compatible with distal intestinal occlusion syndrome. He came at the cystic fibrosis clinic with a 5-day evolution of abdominal pain and a palpable mass in the right hypochondrium. Abdominal ultrasound and abdominal contrasted tomography were performed demonstrating ileocolonic invagination with signs of intestinal ischemia, necrosis and pneumatosis of the intestinal wall. He underwent surgery with resection of the terminal ileum and right hemicolon, and a tumor in the caecum was found. This is a rare cause of acute abdomen in young patients with cystic fibrosis and may be associated with an underlying organic cause.

La invaginación intestinal ocurre cuando un segmento proximal de intestino se repliega dentro de la luz de un segmento distal adyacente y provoca obstrucción intestinal. Es una causa común de abdomen agudo en los dos primeros años de la vida, pero raro en niños mayores. Un varón de 16 años, con diagnóstico de fibrosis quística, se presentó con un cuadro compatible con síndrome de oclusión intestinal distal. Consultó a la clínica con dolor abdominal y una masa palpable en el hipocondrio derecho. Se realizó ecografía abdominal y tomografía de abdomen contrastada, que demostraron invaginación íleo-colónica con signos de isquemia intestinal, necrosis y neumatosis de la pared intestinal. Fue intervenido: se realizó resección del íleon terminal y hemicolon derecho, y se detectó una tumoración en ciego. La invaginación íleo-colónica es una causa rara de abdomen agudo en pacientes adolescentes con fibrosis quística y puede estar asociada a una causa orgánica subyacente.

Aparición del burnout en jugadores de fútbol de primera división profesional en México: Estrategias de intervención / Occurrence of burnout in soccer players of premier league in mexico: Intervention strategies

Durante la temporada 2009/2010 se evaluó a un equipo de futbol profesional primera división en México, con la escala de Maslach y Jackson para evaluar la presencia de Burnout. Encontrándose diferencias significativas posteriores a la intervención psicológica (AU)

During the 2009/2010 season was evaluated at a professional football team first division in Mexico, with the scale of Maslach and Jackson to evaluate the presence of Burnout. Significant differences after psychological intervention (AU)

Ultrasonido Doppler color y terapia endovascular de displasias vasculares superficiales / Color Doppler ultrasound and endovascular approach of superficial vascular displasias

La escleroterapia de las displasias vasculares superficiales se ha monitorizado tradicionalmente con angiografía convencional o con sustracción digital. En este trabajo se evalúa la utilidad del ultrasonido (US) para este propósito. Metodología: Utilizamos ultrasonido bidimensional y Doppler color, para evaluación pre, trans y posesclerosis en 18 pacientes con edades de 24 días a 44 años y polvo de Gelfoam en alcohol absoluto, con contraste yodado, como agente esclerosante. El ultrasoniso (US) fue la guía fundamental y la angiografía digital sólo de apoyo secundario y por "seguridad", un anestesiólogo estuvo a cargo de la sedación y monitoreo de funciones vitales