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<jats:p>Congenital maxillomandibular synechia is a rare malformation that is characterized by a fusion of the maxilla and mandible. The fusion is fibrous or bony and prevents mouth opening, which causes difficulties in feeding and occasionally in breathing. Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. We report the case of a very-low-birth-weight (VLBW) infant with congenital maxillomandibular synechia and other malformations, including cleft palate, syndactyly, and cryptorchidism. The patient presented with extremely limited mouth opening, and endotracheal intubation seemed impossible; fortunately, the patient did not have respiratory distress syndrome. The patient underwent surgical release of the fibrous bands on days 10 and 17, and good mouth opening was achieved. The patient was able to consume breast milk orally and was discharged home at a corrected gestational age of 1 month without recurrence of difficulty in mouth opening or any sequelae. This is the first reported case of a VLBW infant with congenital maxillomandibular synechia who required more complicated management of feeding, surgical intervention, and anesthesia.</jats:p>

<jats:p>Duct-dependent systemic circulation is accompanied by a right-to-left ductal shunt, at least during systole. Although observations of paradoxical continuous left-to-right shunts in duct-dependent systemic circulation have been reported, the mechanism remains unclear. We report a continuous left-to-right ductal shunt throughout the cardiac cycle during the initial recovery phase from circulatory collapse and right ventricular (RV) dysfunction due to ductal closure in an infant with hypoplastic left heart and severe aortic coarctation. Further recovery improved his RV function and changed the ductal flow from continuous left-to-right to bidirectional, which is usually seen in duct-dependent systemic circulation. Marked RV dysfunction may contribute to the continuous left-to-right ductal shunt. A continuous left-to-right ductal shunt should not be used to rule out duct-dependent systemic circulation.</jats:p>

<jats:p>Cancer in pregnancy is rare with most common cancers being melanomas, breast and cervical. Fibromyxoid sarcoma is a soft tissue tumor involving deep soft tissues of the extremities and trunk, rarely located in the abdomen. A low-grade fibromyxoid sarcoma (LGFMS) falls in the family of fibrosarcoma. Only two cases of LGFMS in pregnancy have been reported. We report a case of abdominal LGFMS in pregnancy leading to preterm labor, sepsis and an acute abdomen requiring surgery in the third trimester. 19-year-old woman, gravida 1 at 32 weeks and 5 days presented to an outside hospital with preterm contractions and cervical effacement. She had a known abdominal mass, suspected to be accessory liver lobe, measuring 9.0 x 6.4 x 7.7 cm in the right upper quadrant. At 33 weeks of gestation, she had developed fever and hypotension. MRI confirmed findings however visualized in the left side of the abdomen with suspected abscess. She underwent cesarean delivery, and complete surgical resection of the mass along with a small bowel resection. Final pathology of the mass revealed a LGFMS. This case also highlights the need for a multidisciplinary approach to manage a rare presentation of sepsis and preterm labor in pregnancy</jats:p>

<jats:p>Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant two days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After six months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.</jats:p>

<jats:p>We describe a case of osteogenesis imperfecta in a late preterm female of 35 weeks gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and for breech with non-reassuring fetal tracing, to emergency cesarean. The clinical exam was concerning for Osteogenesis imperfecta, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of Type III Osteogenesis imperfecta was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focus on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of Osteogenesis imperfecta.</jats:p>

<jats:p>We present a neonate with early onset apnea and bradycardia in the absence of primary cardio-respiratory and central nervous system disorders that eventually required chronic ventilator support starting at six hours of life. Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered later in life. However, the ophthalmic evaluation of this neonate on first day of life revealed persistent mild dilated oval pupils with limited light reactivity. </jats:p>

<jats:p>Infection with murine typhus may be associated with significant morbidity. With nonspecific symptoms and laboratory abnormalities, diagnosis may be challenging. In this case, a pregnant patient presented with complaints of fevers and myalgias. Her laboratory results included severe transaminitis as well as thrombocytopenia and hyponatremia. She ultimately required vasopressor support and intensive care unit admission despite fluid resuscitation and broad-spectrum antibiotics. Empiric doxycycline was initiated due to suspicion for murine typhus, which laboratory testing later confirmed. Her clinical status improved with these interventions. This was a severe case of murine typhus resulting in septic shock and ischemic hepatitis. It is important to know the typical findings of murine typhus and consider it in a differential diagnosis, especially when practicing in endemic areas.</jats:p>

<jats:p>Fetal hyperthyroidism is a rare prenatal disease and can be life-threatening. The diagnosis is based on ultrasound in mothers with history of Basedow-Graves and elevation of TRAbs levels. The treatment consists of antithyroid drugs. We present a mother with Basedow-Graves disease, treated with radioactive iodine 16 years ago. She had an unplanned pregnancy at age 29 years, and an elevation of TRAbs (21 U/L) was found at the sixth week of pregnancy. At 22 weeks of gestation, fetal ultrasound displayed tachycardia, goiter, exophthalmos and suspicion of craniosynostosis, hence methimazole was started. Concomitantly, suppressed maternal TSH was found. Her daughter was born at 33 + 6 weeks showing clinical and laboratory findings of hyperthyroidism. Consequently, treatment with methimazole was prescribed. Normal thyroid function was documented in the mother after giving birth. Clear explanation has not been found for the alteration of maternal TSH during pregnancy.</jats:p>

<jats:p>Objective: This study aims to elucidate the clinical manifestations, diagnostic challenges, and management strategies of Adult-Onset Still’s Disease (AOSD) during pregnancy, leveraging a case series overview and a detailed case report from our center. Study Design: A comprehensive review of 21 published case reports on AOSD diagnosed during pregnancy was conducted, alongside a detailed case report of a patient diagnosed and managed at our center. This study emphasizes the importance of recognizing AOSD in pregnant patients, outlines the therapeutic challenges encountered, and discusses the potential complications arising from the disease and its treatment. Results: The onset of AOSD during pregnancy predominantly occurs in the first or second trimester, with a polycyclic disease course observed in the majority of cases. Management primarily involves corticosteroids and immunosuppressive medications. The case report highlights the complex interplay between AOSD, Hemophagocytic Lymphohistiocytosis (HLH), and pregnancy, illustrating a multidisciplinary approach to management that ensured favorable maternal and fetal outcomes despite the significant challenges. Conclusion: AOSD presents unique diagnostic and therapeutic challenges during pregnancy, requiring careful consideration of maternal and fetal health. Early diagnosis, a multidisciplinary approach to care, and judicious use of immunosuppressive therapy are critical for managing AOSD flares and associate</jats:p>

<jats:p>BACKGROUND: Superoxide anions (O2-) have multiple effects on pulmonary parenchyma altering cell proliferation, cellular metabolism, and airway smooth muscle (ASM) contraction. Intracellular Ca2+ concentration ([Ca2+]i) plays a significant role in the regulation of ASM contraction, relaxation, proliferation, and gene expression. OBJECTIVE: We investigated the effects of O2- on agonist-stimulated changes in [Ca2+]i in ASM cells. DESIGN/METHODS: Fura-2 AM-loaded, freshly isolated porcine ASM (PASM) cells were used to examine [Ca2+]i release in response to acetylcholine (ACh), histamine, endothelin, caffeine, and thapsigargin in the presence or absence of extracellular calcium. RESULTS: Exposure of PASM cells to xanthine and xanthine oxidase (X+XO) resulted in a time-dependent generation of O2-, inhibited by superoxide dismutase (SOD). Pre-incubating PASM cells with X+XO for 15- or 45-min inhibited net [Ca2+]i responses to ACh, Histamine, Caffeine, and Thapsigargin compared to control cells. Pretreating PASM cells with SOD for 30 min mitigated the inhibitory effect of X+XO treatment on ACh-induced Ca2+ elevation suggesting role of O2-. X+XO treatment also inhibited caffeine-and thapsigargin-induced Ca2+ elevation suggesting effect of O2- on intracellular calcium release and reuptake mechanisms. CONCLUSIONS: Superoxide attenuates [Ca2+]i release, reuptake and may interfere with physiological functions of ASM cells. </jats:p>