In this paper, we present two siblings with TBX19 gene mutation. The first case was investigated at the age of 2 months for severe hypoglycemia, recurrent convulsions, and prolonged cholestatic jaundice persisting since the neonatal period. [ncbi.nlm.nih.gov]

These infants often present with hypoglycemia, failure to thrive, hepatomegaly, and lactic acidosis. [cancertherapyadvisor.com]

• Asymptomatic

  However, controversy remains surrounding its definition and management especially in asymptomatic patients. [ncbi.nlm.nih.gov]

  Asymptomatic hypoglycemic (blood glucose level Results: Dextrose gel with feeds increased the blood glucose level in 184/250 (74%) of asymptomatic hypoglycemic infants compared to 144/248 (58%) with feeds only (p < 0.01). [karger.com]

  The level of blood glucose at which treatment is recommended in asymptomatic babies is unclear. Blood glucose levels as low as 30 mg/dL in the first 1–2 hours after birth in asymptomatic babies may not be harmful. [babygooroo.com]

  The committee noted that transient, asymptomatic blood glucose levels as low as 30 mg/dL are common after birth, and that the commonly accepted definition of neonatal hypoglycemia (less than 46 mg/dL) is controversial, so screening during this period [healio.com]

• Hypothermia

  Hypothermia 5. Hyperviscosity 6. Erythroblastosis fetalis, fetal hydrops 7. Other a. Iatrogenic causes b. Congenital cardiac malformations C. Intrauterine growth restriction D. Hyperinsulinism E. Endocrine disorders F. [aafp.org]

  Factors which increase the risk of hypoglycemia • Various factors which increase the risk of hypoglycemia are hypothermia & cold Stress, cold environment, wet baby and inadequate feeding. 6. [slideshare.net]

  Hypothermia is defined by the World Health Organization as a core temperature < 36.5° C (97.7° F). In premature infants, hypothermia increases morbidity and mortality. [merckmanuals.com]

  Neuroglycopenic signs include seizure, coma, cyanotic episodes, apnea, bradycardia or respiratory distress, and hypothermia. Listlessness, poor feeding, hypotonia, and tachypnea may occur. [msdmanuals.com]

• Poor Feeding in Infants

  A 6-day old term infant born to a non-diabetic mother was admitted to our hospital with, seizures, irritability and poor feeding. The infant's Apgar score was 8 at 1 minute and 9 at 5 minutes and weighed 3100 g. [ijri.org]

• Neonatal Tetany

  neonatal disorders of calcium and magnesium metabolism P71.0 Cow's milk hypocalcemia in newborn P71.1 Other neonatal hypocalcemia P71.2 Neonatal hypomagnesemia P71.3 Neonatal tetany without calcium or magnesium deficiency P71.4 Transitory neonatal hypoparathyroidism [icd10data.com]

• Sweating

  […] associated with the hypoglycemic neonates were, refusal of feeding (45%), hyporeflexia (36.2%), irritability (30%), cyanosis (28.4%), tackypnea (24.5%), seizure (16.6%), weak cry (15.8%), apneic spels (9.8%), pallor (1.9%), cardiac arrest (9.1%) and sweating [pjms.com.pk]

  Other symptoms may be dizziness, tremulousness, sweating, and insomnia. [kmle.co.kr]

  Difficulty breathing or pauses in breathing (apnea) Rapid breathing Problems regulating body temperature Decreased muscle tone, medically referred to as hypotonia Irritability Grunting Fatigue Listlessness Nausea Skin paleness Vomiting Poor feeding Sweating [thecplawyer.com]

  […] pale skin Breathing problems, such as rapid breathing (tachypnea), pauses in breathing (apnea), or a grunting sound Irritability or listlessness Loose or floppy muscles (hypotonia) Vomiting or poor feeding Weak or high pitched cry Tremors, shakiness, sweating [abclawcenters.com]

  Bluish-colored or pale skin Breathing problems, such as pauses in breathing (apnea), rapid breathing, or a grunting sound Irritability or listlessness Loose or floppy muscles Poor feeding or vomiting Problems keeping the body warm Tremors, shakiness, sweating [medlineplus.gov]

• Lethargy

  Adrenergic signs include diaphoresis, tachycardia, lethargy or weakness, and shakiness. Neuroglycopenic signs include seizure, coma, cyanotic episodes, apnea, bradycardia or respiratory distress, and hypothermia. [msdmanuals.com]

  View/Print Table TABLE 1 Clinical Signs Associated with Hypoglycemia* Changes in levels of consciousness Irritability Lethargy Stupor Apnea, cyanotic spells Coma Feeding poorly after feeding well Hypothermia Hypotonia, limpness Tremor Seizures TABLE 1 [aafp.org]

• Neonatal Seizures

  […] newborn and hypoxemic respiratory failure -- Renal failure in neonates -- Neonatal seizures -- Intraventricular hemorrhage -- Surgical emergencies in the newborn -- Necrotizing enterocolitis. [worldcat.org]

  Nine children with neonatal seizures had moderate or severe white matter injury and 7 had cortical involvement. At 18-month follow-up of 34 children, outcome was normal in 8, showed mild impairment in 15, moderate in 8, and severe impairment in 3. [pediatricneurologybriefs.com]

  Figures and Tables - Analysis 1.5 Comparison 1 Dextrose gel versus control, Outcome 5 Neonatal seizures. Figures and Tables - Analysis 1.6 Comparison 1 Dextrose gel versus control, Outcome 6 Exclusive breast feeding after discharge (WHO definition). [cochranelibrary.com]

  Neonatal seizure s ‐ No seizures occurred in the dextrose gel or placebo group in the one study that reported this outcome (one study, 237 infants). Therefore, the odds ratio is not estimable. [doi.org]

• Apathy

  “In approximate order of frequency there are jitteriness or tremors, apathy, episodes of cyanosis, convulsions, intermittent apneic spells or tachypnea, weak or high-pitched cry, limpness or lethargy, difficulty in feeding, and eye rolling. [cps.ca]

  […] judgment Nonspecific dysphoria, moodiness, depression, crying, exaggerated concerns Feeling of numbness, pins and needles (paresthesia) Negativism, irritability, belligerence, combativeness, rage Personality change, emotional lability Fatigue, weakness, apathy [en.wikipedia.org]

• Behavior Problem

  Other neurologic problems included developmental delays, learning and behavior problems, hyperactivity and attention difficulties, autistic features, microcephaly and cortical blindness. [ncbi.nlm.nih.gov]

[…] errors of metabolism Glycogen storage disease, fatty oxidation errors Evaluation Blood glucose level blood glucose <40mg/dL (preterm infants repeated levels below <50) There is a normal fall in glucose @ 2-4hr of life If no obvious precipitant, consider workup [wikem.org]

For infants experiencing transient hypoglycemia, an extensive diagnostic workup is not necessary. If persistent hyperinsulinism is suspected, the diagnostic workup will include plasma insulin, β-hydroxybutyrate, and free fatty acid levels. [ncbi.nlm.nih.gov]

• Hypoketotic Hypoglycemia

  In addition, the incidence of neurodevelopmental delay was 44%.51 Adverse outcomes are presumed to be caused by hypoketotic hypoglycemia, but there may be other genetic abnormalities affecting neurodevelopment in this patient population as yet unidentified [ncbi.nlm.nih.gov]

• Fasting Hypoglycemia

  Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr. 2001;138:383–9. PubMed CrossRef Google Scholar 16. Bahi-Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. [link.springer.com]

  Activating mutations of glucokinase (GCK) ( Fig. 1 ), the “glucose sensor” of the β-cell, are rare and, depending on the mutation, may cause fasting hypoglycemia in varying degrees at varying ages of life ( 8 ). [diabetes.diabetesjournals.org]

  On biological investigations, hypoglycemias occurred both in the fed and fasting state and was asymptomatic in most patients although it was severe. Refractor hypoglycemias were noted in all neonatal onset patients. [latunisiemedicale.com]

IMPLICATIONS FOR RESEARCH: There is a need for rigorous long-term studies comparing treatment thresholds and neurodevelopmental outcomes among various treatment strategies for TANH. [ncbi.nlm.nih.gov]

[…] from an estimated 35% in the placebo group to 20% in the treatment group. [ebneo.org]

Diffusion restriction, with low apparent diffusion coefficient values, in the mesial occipital poles may indicate the prognosis for visual outcomes in acute settings after neonatal hypoglycemia. [ncbi.nlm.nih.gov]

(See Prognosis.) Causes of hypoglycemia in neonates differ slightly from those in older infants and children. [emedicine.medscape.com]

In almost all infants with transient neonatal hypoglycemia, the prognosis is good, with no associated morbidities. [cancertherapyadvisor.com]

Etiology of neonatal hypoglycemia: We also investigated possible underlying etiologies of neonatal hypoglycemia in present study. Based on our findings, the most frequent cause of hypoglycemia was prematurity. [scialert.net]

OBJECTIVE: To investigate the frequency, etiology and consequences of neonatal hypoglycemia. [ncbi.nlm.nih.gov]

(See Etiology.) Causes of hypoglycemia found in all ages include gram-negative sepsis, endotoxin shock, and ingestions, including of salicylates, alcohol, hypoglycemic agents, or beta-adrenergic blocking agents. [emedicine.medscape.com]

Obstetrics, Gynaecology | keywords: | published on: 8.8.2018 Muzikoterapie keywords: | published on: 13.10.2019 Hypertenze v těhotenství discipline: Obstetrics, Gynaecology | keywords: | published on: 2.3.2011 Pravidelná očkování v Česku discipline: Epidemiology [portal.mefanet.cz]

Goitre epidemiology: Thyroid volume, iodine excretion, thyroglobulin and thyrotropin in Germany and Sweden. Acta Endocrinol 1 12:494501. ‎ [books.google.es]

The definition of neonatal hypoglycemia has been based on the following approaches (or combination of approaches): clinical symptoms (see Table 1 ), epidemiologic approach based on a range of glucose values, acute changes in metabolic and endocrine response [aafp.org]

Antonius Hospital, Departments of Research and Epidemiology (L.M.D.) and Pediatrics (M.D. [nejm.org]

Epidemiology[1] Nelson's syndrome is rare. [patient.info]

In this article, the authors review the clinical manifestations, pathophysiology, diagnostic criteria, and efficacy of multimodal treatment strategies for Nelson's syndrome. [ncbi.nlm.nih.gov]

Hypoglycemia in Diabetes: Pathophysiology, Prevalence, and Prevention. American Diabetes Association: : Alexandria, VA, USA, 2009. 15. Lucas A, Morley R, Cole TJ. Adverse neurodevelopmental outcome of moderate neonatal hypoglycemia. [nature.com]

The pathophysiology of Nelson's syndrome and the factors leading to its development are poorly understood. [patient.info]

[…] observed relates to the local effects of the tumor on surrounding structures, the secondary loss of other pituitary hormones, and the effects of the high serum concentrations of ACTH on the skin. [1] The first case was reported by Nelson et al in 1958. [2] Pathophysiology [emedicine.medscape.com]

Pituitary tumors, pathophysiology, clinical manifestations and management. Endocr Relat Cancer. 2001;8:287-305 Andreassen M, Kristensen LO: Rosiglitazone for prevention or adjuvant treatment of Nelson’s syndrome after bilateral adrenalectomy. [rarediseases.org]

We evaluated the effect of a national prevention guideline stratified according to mild, moderate, and severe risks of hypoglycemia. [ncbi.nlm.nih.gov]

IV dextrose (for prevention and treatment) Enteral feeding Sometimes IM glucagon Most high-risk neonates are treated preventively. [msdmanuals.com]