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]

  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]

  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]

• Hypothermia

  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]

  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 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]

  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

  Listlessness, poor feeding, hypotonia, and tachypnea may occur. All signs are nonspecific and also occur in neonates who have asphyxia, sepsis or hypocalcemia, or opioid withdrawal. [msdmanuals.com]

  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]

  Listlessness, poor feeding, hypotonia, and tachypnea may occur. Bedside glucose check All signs are nonspecific and also occur in neonates who have asphyxia, sepsis or hypocalcemia, or opioid withdrawal. [merckmanuals.com]

  Symptoms Jittery or Tremors Lethargic Hypotonia Apnea Hypothermia Cyanosis Seizures Weak or high pitched cry Poor feeding V. [fpnotebook.com]

• Weakness

  Building on the strengths and weaknesses of existing studies, we developed a proposal for an "optimal" future study design. CONCLUSIONS: Recommendations for clinical practice cannot be based on valid scientific evidence in this field. [ncbi.nlm.nih.gov]

  Symptoms Jittery or Tremors Lethargic Hypotonia Apnea Hypothermia Cyanosis Seizures Weak or high pitched cry Poor feeding V. [fpnotebook.com]

  The following complications are relatively common in children with neonatal diabetes: Developmental delay such as muscle weakness and learning disabilities Diabetic ketoacidosis Low birth weight Muscle weakness Epilepsy Macroglossia - a larger than normal [diabetes.co.uk]

• Falling

  Hyperinsulinemia characteristically results in a rapid fall in serum glucose in the first 1 to 2 h after birth when the continuous supply of glucose from the placenta is interrupted. [msdmanuals.com]

  Hyperinsulinemia characteristically results in a rapid fall in serum glucose in the first 1 to 2 hours after birth when the continuous supply of glucose from the placenta is interrupted. [merckmanuals.com]

  After 12 hours of life, the risk of hypoglycemia in normal neonates falls, but it remains substantial throughout the newborn period, especially in infants with birth asphyxia or low birth weight.Although neonatal hypoglycemia can cause seizures and permanent [nejm.org]

• Respiratory Distress

  Radiology Chest XRay indicated for respiratory distress VII. [fpnotebook.com]

  Give preventive treatment (using oral or IV glucose) to infants of diabetic mothers, extremely premature infants, and infants with respiratory distress. [msdmanuals.com]

• Tachypnea

  […] respiratory distress, etc) Glucose screening is also recommended for infants with clinical signs consistent with hypoglycemia: Tremors, jitteriness, irritability Exaggerated Moro reflex High pitched cry Lethargy, listlessness, hypotonia Cyanosis, apnea, tachypnea [med.stanford.edu]

  These signs include jitteriness, cyanosis, seizures, apneic episodes, tachypnea, weak or high-pitched cry, floppiness or lethargy, poor feeding, and eye-rolling." [medpagetoday.com]

  Listlessness, poor feeding, hypotonia, and tachypnea may occur. All signs are nonspecific and also occur in neonates who have asphyxia, sepsis or hypocalcemia, or opioid withdrawal. [msdmanuals.com]

  Listlessness, poor feeding, hypotonia, and tachypnea may occur. Bedside glucose check All signs are nonspecific and also occur in neonates who have asphyxia, sepsis or hypocalcemia, or opioid withdrawal. [merckmanuals.com]

• Dyspnea

  출처: www.mercksource.com/pp/us/cns/cns_health_library.j... neurocirculatory a. a syndrome characterized by palpitations, dyspnea, a sense of fatigue, fear of effort, and discomfort brought on by exercise or even slight effort; considered by most authorities [kmle.co.kr]

• 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]

• Cyanosis

  Symptoms Jittery or Tremors Lethargic Hypotonia Apnea Hypothermia Cyanosis Seizures Weak or high pitched cry Poor feeding V. [fpnotebook.com]

  3 births per 1000 with hypoglycemia Risks Maternal DM (hyperinsulin) Premies (cannot store glycogen) Sick kids (depleted glycogen) Growth restricted babies (depleted glycogen) Macrosomic kids Clinical Features Jitteriness and irritability Apnea and cyanosis [wikem.org]

  […] show that a few hours of low blood sugar in asymptomatic (symptom-free) babies is harmful, many health care providers routinely screen newborns for hypoglycemia, including those with no signs of low blood sugar—signs include jitteriness, irritability, cyanosis [babygooroo.com]

  Symptoms may include: Jitteriness Cyanosis (blue coloring) Apnea (stopping breathing) Hypothermia (low body temperature) Poor body tone Poor feeding Lethargy Seizures The symptoms of hypoglycemia may resemble other conditions or medical problems. [lpch.org]

• Tachycardia

  Signs include tachycardia, cyanosis, seizures, and apnea. Diagnosis is suspected empirically and is confirmed by glucose testing. Prognosis depends on the underlying condition. Treatment is enteral feeding or IV dextrose. [msdmanuals.com]

  Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. (12 Dec 1998) CancerWEB 영영 의학사전 유사 검색 결과 : 1 페이지: 1 Labbe's neurocirculatory syndrome <syndrome> An anxiety neurosis that may occur in Basedow's disease but may be associated with tachycardia [kmle.co.kr]

• Macroglossia

  Ipoglicemia neonatale, emipertrofia e macroglossia: Quale diagnosi? Medico e Bambino, 34(1), 44-49. [moh-it.pure.elsevier.com]

  The following complications are relatively common in children with neonatal diabetes: Developmental delay such as muscle weakness and learning disabilities Diabetic ketoacidosis Low birth weight Muscle weakness Epilepsy Macroglossia - a larger than normal [diabetes.co.uk]

  […] lasting causes include congenital hyperinsulinism (genetic conditions transmitted in both autosomal dominant and recessive fashion), severe erythroblastosis fetalis, and Beckwith-Wiedemann syndrome (in which islet cell hyperplasia accompanies features of macroglossia [msdmanuals.com]

• Muscle Hypotonia

  (hypotonia) Vomiting or poor feeding Weak or high pitched cry Tremors, shakiness, sweating, or seizures Transient and persistent neonatal hypoglycemia There are two different types of neonatal hypoglycemia, transient (short-term) and persistent (long-term [abclawcenters.com]

• Sweating

  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]

  […] 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]

  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]

  […] 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]

• Withdrawn

  Infants of diabetic mothers have hyperinsulinemia caused by high maternal glucose levels; they may develop transient hypoglycemia after birth, when maternal glucose is withdrawn. [msdmanuals.com]

  After randomization eight participants were withdrawn, mainly because they declined to participate in the trial. Data were analysed for 38 participants at the end of the trial. [cochranelibrary.com]

• Seizure

  Seizure frequency was maximum during infancy and early childhood and decreased thereafter with no seizure in 2 patients, a few seizures a year in 3, and once a month in 1. All patients had status epilepticus in the early course of epilepsy. [ncbi.nlm.nih.gov]

  Seizures developed later, before age 2 years, in 12; these were infantile spasms in 3, generalized in 2, focal in 1, associated with recurrent hypoglycemia in 1, and unspecified in 2 children. Febrile seizures occurred in 3 infants. [pediatricneurologybriefs.com]

• 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]

  Some infants will display no obvious symptoms, while others will exhibit lethargy, apnea, a bluish hue to the skin, low body temperatures, jitters, and in severe cases, seizures. [thurswell.com]

• Convulsions

  In these patients, severe hypoglycemia, convulsions, and prolonged cholestatic jaundice are expected findings in the neonatal period. In this paper, we present two siblings with TBX19 gene mutation. [ncbi.nlm.nih.gov]

  Comparing the data of the full term and preterm subgroups, the seizure etiology, type of convulsion, convulsion time, and medications used to control the seizure were not different. [go.gale.com]

  […] with hypoglycemia Risks Maternal DM (hyperinsulin) Premies (cannot store glycogen) Sick kids (depleted glycogen) Growth restricted babies (depleted glycogen) Macrosomic kids Clinical Features Jitteriness and irritability Apnea and cyanosis Hypotonia Convulsions [wikem.org]

  • The common symptoms are: • Not looking well • Lethargic, • Weak cry, • Poor feeding, • Temperature instability like hypothermia, • Poor respiratory effort: shallow breathing, apnea or cyanosis • CNS symptoms like: excessive jitteriness, convulsions [slideshare.net]

• 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]

[…] 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]

• Hypoglycemia

  Neonatal hypoglycemia is a leading cause of admission of neonates to the NICU. Typical treatment for neonatal hypoglycemia includes supplementation with formula or, in some cases, intravenous glucose administration. [ncbi.nlm.nih.gov]

  Hypoglycemia is the most common metabolic problem in neonates. In children, a blood glucose value of less than 40 mg/dL (2.2 mmol/L) represents hypoglycemia. [emedicine.medscape.com]

  (<40 mg/dL): Symptomatic hypoglycemia in a healthy infant Hypoglycemia with seizures or abnormalities of consciousness Persistent or recurrent hypoglycemia Hypoglycemia requiring greater than 8-10 mg/kg/min of intravenous glucose administration Hypoglycemia [cancertherapyadvisor.com]

• Hyperinsulinemia

  Nursing care for infants with hyperinsulinemia must also focus on the support and education of families. [ncbi.nlm.nih.gov]

  Causes of hyperinsulinemia include the following: IDM: The most common presentation of hyperinsulinemia is IDM. [cancertherapyadvisor.com]

  Infants of diabetic mothers have hyperinsulinemia caused by high maternal glucose levels; they may develop transient hypoglycemia after birth, when maternal glucose is withdrawn. [msdmanuals.com]

• 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]

• Glucose Increased

  Insulin and glucagon are the important hormones in the immediate feedback control system of glucose. When blood glucose increases after a meal, the rate of insulin secretion increases and stimulates the liver to store glucose as glycogen. [emedicine.medscape.com]

These treatments, though effective at treating hypoglycemia, interrupt exclusive breastfeeding and interfere with mother-infant bonding. Our institution developed a treatment algorithm for newborns at risk for neonatal hypoglycemia. [ncbi.nlm.nih.gov]

This study indicates neonatal hypoglycemia may cause posterior cerebral lesions, abnormal findings at neurologic examination, and symptomatic epilepsy, most frequently occipital lobe epilepsy, usually with a good prognosis, and occasionally epileptic [ncbi.nlm.nih.gov]

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

Prognosis The prognosis is good, providing there is early recognition. Co-ordination between surgeons and radiotherapists is important. Postoperative aftercare, with adequate long-term monitoring and replacement of hormones, is vital. [patient.info]

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]

The etiology of this pattern of injury is unclear; however, transient hyperinsulinism may be an independent risk factor. Magnetic resonance brain imaging can delineate the extent of brain injury and guide follow-up. [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]

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]

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]

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]

How can neonatal hypoglycemia be prevented? There are a few ways in which neonatal hypoglycemia can be prevented. [thecplawyer.com]