A rare case of pulmonary lymphangiectasia associated with CHD.

CHD may, at times, occur in the framework of other rare pathologies. These, having similar clinical manifestations, present a diagnostic dilemma for the clinician.The authors present the case of an infant with non-syndromic complete atrioventricular septal defect, whose post-operative period was surprisingly complicated by progressive pulmonary hypertension. Despite intensive care, the infant ultimately died. The diagnosis of unilateral primary pulmonary lymphangiectasia was only possible post mortem.

Phenotyping GABA transaminase deficiency: a case description and literature review.

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.

Massive Pulmonary Arteriovenous Malformation as a Cause of Fetal Heart Failure.

Pulmonary arteriovenous malformations (AVMs) are abnormal connections between the pulmonary arteries and veins that can result in rapid-onset heart failure. We present a case of a fetus with pulmonary AVMs diagnosed at 22 weeks gestation. Fetal echocardiography showed cardiomegaly and dilated pulmonary arteries and veins reflecting the hemodynamic significance of the shunt. Inverted flow through the ductus arteriosus was also present. Fetal autopsy following medical termination of the pregnancy confirmed the morphological findings, including displacement of arteries and veins in proximity to the pleural surface. The genetic study was negative. This report highlights the cardiovascular impact of a rare disorder. Inverted flow through the ductus arteriosus may be another poor prognostic indicator, useful in parental counseling.

Unlocking the Potential of Stem Cell Microenvironments In Vitro.

The field of regenerative medicine has recently witnessed groundbreaking advancements that hold immense promise for treating a wide range of diseases and injuries. At the forefront of this revolutionary progress are stem cells. Stem cells typically reside in specialized environments in vivo, known as microenvironments or niches, which play critical roles in regulating stem cell behavior and determining their fate. Therefore, understanding the complex microenvironments that surround stem cells is crucial for advancing treatment options in regenerative medicine and tissue engineering applications. Several research articles have made significant contributions to this field by exploring the interactions between stem cells and their surrounding niches, investigating the influence of biomechanical and biochemical cues, and developing innovative strategies for tissue regeneration. This review highlights the key findings and contributions of these studies, shedding light on the diverse applications that may arise from the understanding of stem cell microenvironments, thus harnessing the power of these microenvironments to transform the landscape of medicine and offer new avenues for regenerative therapies.

Hodgkin's variant of Richter transformation during ibrutinib therapy: A case report and review of the literature.

Hodgkin's variant of Richter transformation is a rare complication of chronic lymphocytic leukemia and is associated with inferior outcomes compared to de novo Hodgkin lymphoma. Further data concerning prognosis and treatment of Hodgkin's variant of Richter transformation occurring in the setting of novel targeted therapies are needed.

Caenorhabditis elegans as an in vivo model to assess fucoidan bioactivity preventing Helicobacter pylori infection.

Currently, Helicobacter pylori is the unique biological carcinogenic agent. The search for antimicrobial alternatives to antibiotics against this pathogen has been categorized as a priority due to the drastic failure associated with current applied antibiotic therapy. The present study assessed the bioactive antimicrobial capability of fucoidan ("Generally Recognized as Safe" approval - European Commission December 2017) from different species of Phaeophyceae algae (Fucus vesiculosus, Undaria pinnatifida, Macrocystis pyrifera) against H. pylori. All the studied fucoidans showed bacteriostatic and bactericidal effects at the studied concentrations [5-100] µg ml-1 and exposure times [0-7 days]. The most effective anti-H. pylori fucoidan was validated in Caenorhabditis elegans as an in vivo model. C. elegans feed was supplemented with Undaria pinnatifida [0-100] µg ml-1 fucoidan, resulting in a significant improvement in lifespan, lowered H. pylori concentration in the digestive tract, and increased egg-laying pattern. New research lines proposing this compound as an active agent in nutraceutical and preventive novel therapies should be opened.

Dichorionic pregnancy complicated by a twin-to-twin transfusion syndrome.

Twin-to-twin transfusion syndrome (TTTS) is a serious complication typical of monochorionic pregnancies. Cases in dichorionic pregnancies have been described. The authors present a case report of a presumed TTTS in a dichorionic pregnancy followed at our institution in which the patient presented to the emergency department at 31 4/7 weeks' gestation complaining of lack of fetal movements. Both fetuses did not show any cardiac activity. On the first twin, an oligohydramnios was present and his bladder was not visualised and, on the second twin, a polyhydramnios and an augmented bladder were visualised. Pathological findings of the fetuses were compatible with a diagnosis of TTTS and placental study confirmed the presence of a dichorionic/diamniotic placenta, with superficial vessels crossing the dividing membrane.

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.

[Prevalence of metabolic syndrome in elderly patients]. / Prevalencia del síndrome metabólico en los ancianos hospitalizados.

OBJECTIVES: To determine the prevalence of metabolic syndrome (MS) according to the definitions of the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) and the International Diabetes Federation (IDF) and its relation to cardiovascular disease (CVD) in hospitalized elderly patients. MATERIAL AND METHODS: This descriptive and prospective study (February-March 2011) included 200 consecutive patients hospitalized in a Geriatric Department. Sociodemographic, clinical and biochemical data was collected. RESULTS: The prevalence of MS was 65% (NCEP-ATP III) and 67.5% (IDF) and was greater in women (NCEP-ATP III=72.8%, IDF=73.6%) than in men (NCEP-ATP III=50.7%; IDF=56.3%). The mean age of patients diagnosed with MS by both diagnostic criteria were similar: 84.7 years. MS was not associated with an increased prevalence of CVD. CONCLUSIONS: MS is highly prevalent in elderly hospitalized patients, being higher in women, with both diagnostic criteria (NCEP- ATP III and IDF). In our population the MS was not associated with an increased prevalence of CVD.

Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.

Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all data for agreement between the ultrasound, genetic, and postmortem findings, regarding the abnormalities identified in the etiological diagnosis and its prognosis. Results. Chromosome abnormalities were the most common indication for TOP (39%), followed by abnormalities of CNS (20%), monogenic disorders (11%), sequences (9.6%), polimalformative syndromes (5.2%), and isolated congenital heart diseases (4%). Total agreement was 21%. Further abnormalities were identified in 79%. The data collected after TOP changed the etiologic diagnosis in 21% but the prognosis was changed in only one fetus. Discussion. This study corroborates the necessity of a multidisciplinary team in prenatal diagnosis centers. Their work remarkably improves the genetic counseling and represents an important aspect in quality control of the information given to a couple previously to a TOP.

[Placental vascular lesion as cause of IUGR and nonimmune fetal hydrops in twin pregnancy]. / Lesão vascular da placenta condicionando RCIU e hidropisia fetal não imune em gestação gemelar.

Placenta vascular lesions are a group of distinct yet related entities that include chorangiomas and diffuse multifocal chorangiomatosis. Chorangioma is an expansive nodular lesion with an incidence of about 1%. Diffuse multifocal chorangiomatosis is rare (0.2%) and mostly seen in placentas before the 32nd gestational week. The authors present a case of a monochorionic/biamniotic twin pregnancy, in which, at the 26th gestational week, one fetus developed intrauterine growth restriction (IUGR), hydrops, and anemia associated with a tumor of the placenta with increased vascularization in the Doppler study. Pathological examination of the placenta diagnosed diffuse multifocal chorangiomatosis. This rare case report of diffuse multifocal chorangiomatosis with prenatal manifestations resembling those of a chorangioma proves that prenatal ultrasound detection of a placenta tumor, with increased vascularization at Doppler study, must raise other diagnostic possibilities beside chorangioma.

Lesão vascular da placenta condicionando RCIU e hidropisia fetal não imune em gestação gemelar / Placental vascular lesion as cause of IUGR and nonimmune fetal hydrops in twin pregnanc

As lesões vasculares da placenta constituem um grupo de entidades distintas, mas inter-relacionadas, em que se incluem os corioangiomas e a corangiomatose multifocal difusa. O corioangioma é uma lesão nodular expansiva com incidência de cerca de 1 por cento. A corangiomatose multifocal difusa é rara (0,2 por cento) e predominante em placentas em idade gestacional inferior a 32 semanas. Os autores apresentam um caso de gestação gemelar monocoriônica/biamniótica, no qual um dos fetos, à 26ª semana de gestação, apresentou quadro de restrição de crescimento intrauterino, hidropisia e anemia associado à formação tumoral da placenta com vascularização aumentada verificada pela doplervelocimetria. O estudo anatomopatológico da placenta permitiu o diagnóstico de corangiomatose multifocal difusa. Este raro caso de corioangiomatose multifocal difusa com forma de apresentação pré-natal mimetizando a de um corioangioma comprova que a detecção ultrassonográfica de um tumor da placenta com vascularização aumentada deve suscitar outras hipótese diagnóstica, além do corioangioma.

Placenta vascular lesions are a group of distinct yet related entities that include chorangiomas and diffuse multifocal chorangiomatosis. Chorangioma is an expansive nodular lesion with an incidence of about 1 percent. Diffuse multifocal chorangiomatosis is rare (0.2 percent) and mostly seen in placentas before the 32nd gestational week. The authors present a case of a monochorionic/biamniotic twin pregnancy, in which, at the 26th gestational week, one fetus developed intrauterine growth restriction (IUGR), hydrops, and anemia associated with a tumor of the placenta with increased vascularization in the Doppler study. Pathological examination of the placenta diagnosed diffuse multifocal chorangiomatosis. This rare case report of diffuse multifocal chorangiomatosis with prenatal manifestations resembling those of a chorangioma proves that prenatal ultrasound detection of a placenta tumor, with increased vascularization at Doppler study, must raise other diagnostic possibilities beside chorangioma.