Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011570 (depression)
 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The sodium leak channel, a Na+-permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+-leak conductance and regulating neuronal excitability. A 3-year-old girl, heterozygous for a de novo missense mutation in NALCN (c.956C>T; p.Ala319Val) predicted to be deleterious, presented from birth with: stimulus-induced, episodic contractures of the limbs and face with associated respiratory distress; distal arthrogryposis; severe axial hypotonia; and severe global developmental delay (CLIFAHDD syndrome). In infancy, she manifested a reversed sleep-wake rhythm, nocturnal life-threatening respiratory rhythm disturbances with central apnea. Sevoflurane sensitivity caused respiratory depression and cardiac arrest.
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PMID:Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. 2784 33

The Dravet Syndrome Foundation (DSF) conducted the largest in-depth survey of parents and caregivers of patients with Dravet syndrome (DS) to date, in order to (1) identify top concerns among caregivers, (2) establish an approximate frequency of characteristics and comorbidities of DS beyond seizures, and (3) provide direction for clinicians and researchers looking to study the effects of DS on the patient and family unit. Two hundred fifty-six responses were received representing a patient age range of 9months to 32years with a median age group of 7-10years (IQR=8). In an open response, caregivers ranked speech/communication, impacts on siblings, and cognitive impairment as their top concerns after seizure control, and nearly two-thirds of caregivers reported having suffered from depression. Some characteristics of DS such as gait issues increased with patient age, while others, including photosensitivity, hypotonia, and ataxia, were present from a young age. Comorbidities such as sleep disturbances and cardiac abnormalities were more frequently reported than in previous studies and some (including bradycardia) were correlated with SCN1A mutation status. This survey supports the concept of Dravet syndrome as a disease of the central nervous system with far-reaching effects and highlights the importance of the patient voice in determining appropriate research objectives. While seizure frequency is a relatively well-understood objective, seizures represent only a portion of parent and caregiver concerns. Studying the characteristics of DS described herein may identify additional outcomes significant for research.
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PMID:Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. 2873 59

Magnesium (Mg) is an essential mineral in the body, impacting the synthesis of biomacromolecules, bone matrix development, energy production, as well as heart, nerve, and muscle function. Although the importance of Mg is evident, reference values for serum Mg (sMg) in pediatric patients (more specifically, in neonates) are not well established. This systematic literature review and meta-analysis (using 47 eligible studies) aims to quantify normal and tolerable ranges of sMg concentrations during the neonatal period and to highlight the factors influencing Mg levels and the importance of regulating sMg levels during pregnancy and birth. In newborns without Mg supplementation during pregnancy, magnesium levels at birth (0.76 (95% CI: 0.52, 0.99) mmol/L) were similar to that of mothers during pregnancy (0.74 (95% CI: 0.43, 1.04) mmol/L), but increased during the first week of life (0.91 (95% CI: 0.55, 1.26) mmol/L) before returning to adult levels. This pattern was also seen in newborns with Mg supplementation during pregnancy, where the average was 1.29 (95% CI: 0.50, 2.08) mmol/L at birth and 1.44 (95% CI: 0.61, 2.27) mmol/L during the first week of life. Factors influencing these levels include prenatal Mg supplementation, gestational age, birth weight, renal maturity/function, and postnatal Mg intake. Elevated Mg levels (>2.5 mmol/L) have been associated with an increased risk of mortality, admission into intensive care, hypotonia, hypotension, and respiratory depression but sMg concentrations up to 2.0 mmol/L appear to be well tolerated in neonates, requiring adequate survey and minimal intervention.
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PMID:Serum Magnesium Levels in Preterm Infants Are Higher Than Adult Levels: A Systematic Literature Review and Meta-Analysis. 2903 9

Merosin-deficient congenital muscular dystrophy (MD-CMD) is the most common and severe form of congenital muscular dystrophy and is characterized by progressive severe hypotonia due to the absence of the merosin chain around muscle fibers. The main anesthetic concerns include a possible association with malignant hyperthermia, the risk of anesthesia-induced rhabdomyolysis, a difficult airway and postoperative respiratory failure. We report the case of an uneventful general anesthesia (GA) in a two-year-old boy with MD-CMD for the placement of an implantable venous access system. The goal of our anesthetic management was to reduce the risk of respiratory depression. We considered the possibility of loss of spontaneous ventilation against the known, but rare, risk of rhabdomyolysis and we choose for a balanced GA with sevoflurane, short acting opioids and a pressure support ventilation mode instead of a trigger-free anesthesia. Our anesthetic management and the perioperative concerns for this particular syndrome are described.
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PMID:Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia. 2987 69

Uterine inversion is a rare but potentially serious complication of labour characterized by "glove-finger" introflexion of the uterine body protruding into the vagina or out of the vulva. This disease commonly occurs just after delivery and it is characterized by severe pain associated with hemorrhagic shock. The diagnosis is essentially based on clinical examination and must be immediate in order to allow quick reinversion before the formation of a constriction ring. Mortality rate is low if patients are early diagnosed and treated. Uterine inversion does not seem to affect the obstetrical prognosis. Contributing factors mainly include uterine hypotonia associated with fundal placenta causing depression of the uterine fundus in case of inappropriate maneuvers (pulling on the umbilical cord, uterine expression). Reinversion should be quick associated with resuscitation measures (shock resuscitation). It is based on several manual methods consisting of returning the uterus after possible muscle relaxants treatment (nitrated derivatives, betamimetics and general anesthesia). Failure results in surgical treatment using high or low approach. We report the case of total uterine reinversion during delivery by cesarean section.
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PMID:[Uterine inversion: about a case]. 2987 80

Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported. We describe an infant with classical neonatal NKH who presented on the third day of life with hypotonia, poor feeding, respiratory insufficiency resulting in ventilatory support and seizures with burst-suppression pattern on electroencephalogram (EEG). KD initiated at age 6 months for intractable seizures, lead to a dramatic decrease in seizure frequency, EEG improvements, normalisation of plasma glycine levels, reduced spasticity and improved quality of life. KD may be a valuable treatment modality for refractory seizure control in classical NKH.
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PMID:Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report. 3010 80

Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I collagen; at least 17 other genes have been associated with OI. Biallelic loss-of-function mutations in WNT1 cause severe OI. Heterozygous missense variants in WNT1 are responsible for early-onset osteoporosis with variable bone phenotypes. Herein, we report a third-generation family with four affected individuals, some presenting with multiple low-impact fractures in childhood and others presenting with early-onset osteoporosis without a striking fracture history. A WNT1 variant (c. 1051 > C; p.Trp351Arg) was identified in the proband and segregated with a bone phenotype in three additional family members, consistent with autosomal dominant inheritance. In the proband, whole genome sequencing also revealed a de novo duplication (434 kb) of 22q11.2 that involves 25 genes, 4 of which are associated with human disease when haploinsufficient. Though smaller than the typical (1.5 Mb) 22q11.2 duplication, the duplication in the proband may be responsible for additional nonosseous aspects of his phenotype (hypotonia, developmental delay, small genitalia, strabismus, and depression in preadolescence). This case demonstrates the variability of bone phenotype conferred by a WNT1 variant and extends the spectrum of bone phenotypes associated with heterozygous WNT1 mutations.
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PMID:Heterozygous WNT1 variant causing a variable bone phenotype. 3024 18

Benzodiazepine use and dependence are on the rise as well as the number of deaths attributable to the combination of opioids and benzodiazepines. Anxiety, the most frequent condition for which benzodiazepines are prescribed, occurs commonly, and is increasingly noted to coincide with pregnancy. Use of both benzodiazepine anxiolytics and anxiety in pregnancy is associated with preterm delivery and low birth weight. Short-term neonatal effects of hypotonia, depression, and withdrawal are described but long-term sequelae, if any, are poorly understood. Benzodiazepines are associated with physical dependence and withdrawal symptoms which can be serious. To avoid withdrawal, tapering off these medications is recommended. What is known about the pharmacology and pharmacokinetics, pregnancy implications, tapering schedules, and alternative strategies for anxiety are discussed.
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PMID:Benzodiazepines in Pregnancy. 3062 16

In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the PCNT and PRMT2 genes. The current study aimed to provide insight into the human genome morbidity map of chromosome 21.
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PMID:Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report. 3125 97

A 9-year old male patient with a past medical history of congenital cytomegalovirus (CMV) infection and spastic quadriplegic cerebral palsy with an intrathecal baclofen pump was admitted to a tertiary care hospital with respiratory depression and unresponsiveness for approximately two days. He had a recent two-week hospital stay for respiratory failure due to pneumonia. After being prescribed antibiotics and being sent home, he had developed copious diarrhea. On readmission, he was found to be dehydrated and in acute renal failure. A physical exam revealed hypotonia throughout, in a patient who typically had spasticity with contractures. The Pediatric Rehabilitation Medicine service was consulted for possible baclofen toxicity. Some signs and symptoms of baclofen toxicity include respiratory depression, seizures, CNS depression, hypotonia, hypotension, absent deep tendon reflexes, lethargy, ataxia, and cardiac arrhythmias. His intrathecal baclofen (ITB) dose was reduced, and signs/symptoms of ITB overdose began to resolve. As renal function improved, spasticity returned, necessitating increase in ITB dosing toward the premorbid dose.
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PMID:Intrathecal baclofen toxicity in a patient with acute kidney injury. 3147 82


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