The Limb Body Wall Complex (LBWC) aka. Body Stalk Syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary, anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has fatal prognosis.
Background: Bronchopulmonary dysplasia is a devastating disease of the premature newborn with high morbidity and mortality. Surfactant deficient preterm lungs are susceptible to ventilator induced lung injury, thereby developing bronchopulmonary dysplasia. Despite surfactant therapy and newer ventilation strategies, associated morbidity and mortality remains unchanged. Enhancing surfactant production and reducing ventilator induced lung injury in premature infants are critical. Recombinant keratinocyte growth factor previously been studied to treat adult respiratory distress syndrome. We hypothesized that administering recombinant human keratinocyte growth factor when initiating mechanical ventilation would help stimulate type II cell proliferation and surfactant production. Recombinant human keratinocyte growth factor may also help mitigate ventilator induced lung injury hereby reducing epithelial to mesenchymal transition, a possible precursor to later development of bronchopulmonary dysplasia. Methods: To test our hypothesis, we delivered preterm pigs via cesarean section on day 102. We performed intubation and ventilation for 24 hr. using intermittent positive pressure ventilation. After ventilation began, pigs randomly received intratracheal recombinant human keratinocyte growth factor (20 µg/kg; n=6) or sham treatment (0.5 ml 0.9% saline; n= 6). We recorded physiology data and arterial blood gases during ventilation. After 24 hr. pigs were extubated and received oxygen via nasal cannulation 12 hr. before euthanasia to collect lungs for histopathology and immunohistochemistry. Immunohistochemistry staining was graded and analyzed for surfactant protein B and epithelial to mesenchymal transition markers. Data were analyzed using t-test and Fisher’s exact test. Continuous variables analyzed using ANOVA.Results: Compared with control pigs, recombinant human keratinocyte growth factor pretreated pigs had improved ventilation with higher tidal volumes and required less oxygen (FiO2) during mechanical ventilation for similar peak pressures demonstrating improved lung compliance. Recombinant human keratinocyte growth factor pretreated pig lungs showed increased surfactant protein B expression (p< 0.05) and significantly reduced TGF-β (p< 0.05), a prominent marker for epithelial to mesenchymal transition.Conclusions: Intratracheal recombinant human keratinocyte growth factor administered at initiation of mechanical ventilation enhances surfactant production, reduce lung injury by mitigation of the changes by epithelial mesenchymal transition, thereby improving outcomes. Thus, recombinant human keratinocyte growth factor may represent a potential therapeutic strategy to prevent bronchopulmonary dysplasia.
The antiphospholipid syndrome is a systemic autoimmune disease dened by thrombotic or obstetrical events that occur in patients with persistent antiphospholipid antibodies. Anti-phospholipid antibodies (APLA) are a part of heterogeneous group of circulating serum polyclonal immunoglobulins (IgG, IgM, IgA or mixed) that bind negatively charged or neutral phospholipid component of cell membranes and cause increased tendency to venous or arterial thrombosis. Persistently positive APS requires that laboratory tests be conducted at least 12 weeks apart. We report a 67 years old pleasant lady presented with sudden onset dizziness, left sided weakness and right facial deviation for two days. In view of deranged aPTT and high clinical suspicion, Lupus anticoagulation tests were done using DRVVT which was prolonged. Tests were repeated after 12 weeks and Lupus anticoagulant remained positive. Routine aPTT detects upto 30% of APLAS, but DRVVT and Antibodies must be considered in such cases. This is a treatable condition, and can be prevented with long term anticoagulation. Key Message- Routine aPTT detects upto 30% of APLAS, but DRVVT and Antibodies must be considered in such cases. This is a treatable condition, and can be prevented with long term anticoagulation.
Background: Bronchopulmonary dysplasia is a devastating disease of the premature newborn with high morbidity and mortality. Surfactant deficient preterm lungs are susceptible to ventilator induced lung injury, thereby developing bronchopulmonary dysplasia. Despite surfactant therapy and newer ventilation strategies, associated morbidity and mortality remains unchanged. Enhancing surfactant production and reducing ventilator induced lung injury in premature infants are critical. Recombinant keratinocyte growth factor previously been studied to treat adult respiratory distress syndrome. We hypothesized that administering recombinant human keratinocyte growth factor when initiating mechanical ventilation would help stimulate type II cell proliferation and surfactant production. Recombinant human keratinocyte growth factor may also help mitigate ventilator induced lung injury hereby reducing epithelial to mesenchymal transition, a possible precursor to later development of bronchopulmonary dysplasia. Methods: To test our hypothesis, we delivered preterm pigs via cesarean section on day 102. We performed intubation and ventilation for 24 hr. using intermittent positive pressure ventilation. After ventilation began, pigs randomly received intratracheal recombinant human keratinocyte growth factor (20 μg/kg; n=6) or sham treatment (0.5 ml 0.9% saline; n= 6). We recorded physiology data and arterial blood gases during ventilation. After 24 hr. pigs were extubated and received oxygen via nasal cannulation 12 hr. before euthanasia to collect lungs for histopathology and immunohistochemistry. Immunohistochemistry staining was graded and analyzed for surfactant protein B and epithelial to mesenchymal transition markers. Data were analyzed using t-test and Fisher’s exact test. Continuous variables analyzed using ANOVA.Results: Compared with control pigs, recombinant human keratinocyte growth factor pretreated pigs had improved ventilation with higher tidal volumes and required less oxygen (FiO2) during mechanical ventilation for similar peak pressures demonstrating improved lung compliance. Recombinant human keratinocyte growth factor pretreated pig lungs showed increased surfactant protein B expression (p< 0.05) and significantly reduced TGF-β (p< 0.05), a prominent marker for epithelial to mesenchymal transition. Conclusions: Intratracheal recombinant human keratinocyte growth factor administered at initiation of mechanical ventilation enhances surfactant production, reduce lung injury by mitigation of the changes by epithelial mesenchymal transition, thereby improving outcomes. Thus, recombinant human keratinocyte growth factor may represent a potential therapeutic strategy to prevent bronchopulmonary dysplasia.
BACKGROUND: Superoxide is implicated in lung disease, injury, and transplantation. In lung, many defense mechanisms, especially superoxide dismutase (SOD) and metallothionein, neutralize superoxide. Superoxide anions (O2-) have multiple effects on pulmonary parenchyma, altering cell proliferation, redox enzyme activation and smooth muscle contraction. Airway smooth muscle (ASM) contraction requires elevated intracellular Ca2+ ([Ca2+]i). [Ca2+]i release from intracellular stores also participates in contractile responses to multiple agonists. OBJECTIVE: We investigated the effects of O2- on agonist-stimulated [Ca2+]i responses in ASM cells. DESIGN/METHODS: Porcine ASM (PASM) cells were dissociated using collagenase and papain. Fura-2 AM-loaded PASM cells were used to examine [Ca2+]i release in response to acetylcholine (ACh), histamine, endothelin combined with lanthanum, and no Ca2+. RESULTS: In PASM cells, agonist exposure generated a biphasic Ca2+ response. Dihydrorhodamine-loaded cells exposed to xanthine and xanthine oxidase showed time-dependent generation of (O2-), which was inhibited by SOD. Pre-incubation with xanthine and xanthine oxidase for 15 or 45 min revealed significant inhibition of net [Ca2+]i responses to 100 nM and 1 M ACh and 50 M histamine. However, basal [Ca2+]i was similar in cells exposed to O2- and controls. Multiple agonists inhibited Ca2+ release in the presence of O2-. CONCLUSIONS: Superoxide impairs [Ca2+]i release and may interfere with the contractile mechanism in ASM cells. Alteration of a common signaling pathway may be involved in [Ca2+]i regulation. The effects of O2- were not likely due to cell damage since basal [Ca2+]i was unchanged. We need further experiments to identify the molecular targets of O2- in Ca2+ homeostasis.
The limb–body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.
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