scholarly journals Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

2015 ◽  
Vol 61 (5) ◽  
pp. 407-410 ◽  
Author(s):  
Larissa Sampaio de Athayde Costa ◽  
Stephanie Pucci Pegler ◽  
Rute Facchini Lellis ◽  
Vera Lúcia Jornada Krebs ◽  
Stephen Robertson ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Neonatal Period ◽  
Correct Diagnosis ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Serum Copper ◽  
Clinical Findings ◽  
Male Fetus ◽  
Neurological Alterations ◽  
Low Levels

Summary Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and serum copper. Molecular analysis confirms the diagnosis. Treatment is parenteral administration of copper histidine. We report a familial case with molecular confirmation. The proband had clinical and biochemical suspicious. Treatment with copper histidine was indicated, but initiated at the age of 2 months and 27 days only. He did not present improvements and died at 6 months. The mother became pregnant again, a male fetus was identified and copper histidine was manufactured during pregnancy. He was born healthy, biochemical markers were reduced and treatment was indicated. Molecular analysis was performed confirming mutation in both the mother and the proband, while the other son did not have mutation, so treatment was discontinued. We support the clinical relevance of molecular confirmation for the correct diagnosis and genetic counseling, once clinical findings in the neonatal period are nonspecific and early treatment with parenteral copper histidine must be indicated.

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

scholarly journals Neurobiological Mechanisms of the Onset of Puberty in Primates*

2001 ◽  
Vol 22 (1) ◽  
pp. 111-151 ◽  
Author(s):  
Ei Terasawa ◽  
David L. Fernandez
Keyword(s):  
Rhesus Monkeys ◽  
Neonatal Period ◽  
Developmental Changes ◽  
Neurosecretory System ◽  
Neuronal System ◽  
Inhibitory Neurotransmitter ◽  
Gaba Inhibition ◽  
Female Rhesus ◽  
Lhrh Release ◽  
Low Levels

Abstract An increase in pulsatile release of LHRH is essential for the onset of puberty. However, the mechanism controlling the pubertal increase in LHRH release is still unclear. In primates the LHRH neurosecretory system is already active during the neonatal period but subsequently enters a dormant state in the juvenile/prepubertal period. Neither gonadal steroid hormones nor the absence of facilitatory neuronal inputs to LHRH neurons is responsible for the low levels of LHRH release before the onset of puberty in primates. Recent studies suggest that during the prepubertal period an inhibitory neuronal system suppresses LHRH release and that during the subsequent maturation of the hypothalamus this prepubertal inhibition is removed, allowing the adult pattern of pulsatile LHRH release. In fact,γ -aminobutyric acid (GABA) appears to be an inhibitory neurotransmitter responsible for restricting LHRH release before the onset of puberty in female rhesus monkeys. In addition, it appears that the reduction in tonic GABA inhibition allows an increase in the release of glutamate as well as other neurotransmitters, which contributes to the increase in pubertal LHRH release. In this review, developmental changes in several neurotransmitter systems controlling pulsatile LHRH release are extensively reviewed.

scholarly journals Fatal Nemaline Myopathy in Infancy

1984 ◽  
Vol 11 (2) ◽  
pp. 305-309 ◽  
Author(s):  
Joseph B. McMenamin ◽  
Bernadette Curry ◽  
Glen P. Taylor ◽  
Laurence E. Becker ◽  
E. Gordon Murphy
Keyword(s):  
Respiratory Failure ◽  
Peripheral Nerves ◽  
Neonatal Period ◽  
Nemaline Myopathy ◽  
Clinical Findings ◽  
Neural Basis ◽  
Limb Muscles ◽  
The Central Nervous System ◽  
Severe Hypotonia ◽  
Clinical Stability

ABSTRACT:The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

scholarly journals Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

2022 ◽  
pp. 1-4
Author(s):  
Nikhil Vikas Pawar ◽  
Fatima Farid Mir
Keyword(s):  
Seizure Activity ◽  
Multidisciplinary Care ◽  
Menkes Disease ◽  
Symptomatic Treatment ◽  
Serum Copper ◽  
Subcortical White Matter ◽  
Acute Onset ◽  
Hair Shaft ◽  
Recurrent Seizure ◽  
Antiepileptic Medications

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G>A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

scholarly journals Oral health profile in patients infected with HTLV-1: Clinical findings, proviral load, and molecular analysis from HTLV-1 in saliva

2012 ◽  
Vol 84 (9) ◽  
pp. 1428-1436 ◽  
Author(s):  
Liliane Lins ◽  
Victor José Uchoa de Carvalho ◽  
Filipe Ferreira de Almeida Rego ◽  
Rochele Azevedo ◽  
Simone Kashima ◽  
...  
Keyword(s):  
Oral Health ◽  
Molecular Analysis ◽  
Proviral Load ◽  
Clinical Findings ◽  
Health Profile

scholarly journals Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Dhrubajyoti Bandyopadhyay ◽  
Adrija Hajra ◽  
Vijayan Ganesan ◽  
Suvrendu Sankar Kar ◽  
Debarati Bhar ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Bacterial Overgrowth ◽  
Close Correlation ◽  
Small Intestinal Bacterial Overgrowth ◽  
Clinical Findings ◽  
Careful Examination ◽  
Chronic Diarrhoea ◽  
History Of ◽  
Clostridium Difficile Toxin ◽  
Colon And Rectum

A young Indian man presented with nine-month history of chronic diarrhea, occasionally mixed with blood and intermittent colicky abdominal pain. He also complained of generalized body swelling for the last three months. On examination, he had diffuse hyperpigmentation of the skin and dystrophic nail changes. Upper and lower gastrointestinal endoscopy revealed multiple sessile polyps in the stomach, small bowel, and colon and rectum. Biopsy of polyps showed adenomatous changes with stromal edema and dilated glands. Cronkhite-Canada syndrome (CCS) was diagnosed and treated with glucocorticoids and enteral nutritional supplementation. There was an associated small intestinal bacterial overgrowth (SIBO) and stool was positive for clostridium difficile toxin. After 12 weeks of treatment, the patient achieved remission. Close correlation with clinical findings, including pertinent ectodermal abnormalities, endoscopic studies, and careful examination of biopsies will ensure a timely and correct diagnosis of CCS.

FACTOR V LEVELS IN THE NEONATAL PERIOD

PEDIATRICS ◽  
1955 ◽  
Vol 15 (2) ◽  
pp. 180-184
Author(s):  
Lyonel G. Israels ◽  
Alvin Zipursky ◽  
Colin Sinclair
Keyword(s):  
Neonatal Period ◽  
The Other ◽  
Factor V ◽  
Clotting Factors ◽  
Low Levels ◽  
Plasma Activity

Utilizing a modification of the 1-stage method of Wolff, the plasma activity of Factor V was estimated in 53 normal newborns during the first week of life. By this method many newborns were found to have low levels of Factor V during the first 2 days of life which rose towards normal by the sixth day. These findings are discussed with reference to previous findings and to the variations in the other clotting factors during the neonatal period.

MENKES'S KINKY HAIR SYNDROME

PEDIATRICS ◽  
1972 ◽  
Vol 50 (2) ◽  
pp. 188-201 ◽  
Author(s):  
David M. Danks ◽  
Peter E. Campbell ◽  
Brian J. Stevens ◽  
Valerie Mayne ◽  
Elizabeth Cartwright
Keyword(s):  
Cerebral Arteries ◽  
Copper Metabolism ◽  
Serum Copper ◽  
Clinical Feature ◽  
Cystic Degeneration ◽  
Internal Elastic Lamina ◽  
Arterial Walls ◽  
Complete Obliteration ◽  
Kinky Hair ◽  
Kinky Hair Syndrome

Seven new cases of Menkes's kinky hair syndrome are described from five families. These patients were seen in a period of 3 years in Melbourne and the frequency of the disease is estimated to be 1 in 35,000 live births. Seven other affected males were present in these families and each pedigree was compatible with X-linked inherintance. Hypothermia was noted to be an important clinical feature which has escaped previous attention. Widespread arterial tortuosity and variation in the lumen of arteries has been demonstrated by arteriography and by microscopic examination at necropsy. Fragmentation of the internal elastic lamina is seen in the arterial walls with thickening of the intima in the most severely affected vessels. This process can lead to complete obliteration of major arteries. Involvement of cerebral arteries is the probable cause of the gliosis and cystic degeneration seen in the brain. Metachromasia was observed in fibroblasts cultured from patients and from heterozygous females. Low levels of serum copper and ceruloplasmin were found in all patients studied and a defect in the intestinal absorption of copper has been demonstrated. This appears to be the basic defect in the disease and copper deficiency provides an adequate explanation of all the features of the disease. Parenteral administration of copper may prove therapeutically effective. These findings suggest many new lines of research on copper metabolism and trace metal deficiency.

Cloning and molecular analysis of the HAP2 locus: a global regulator of respiratory genes in Saccharomyces cerevisiae

1985 ◽  
Vol 5 (12) ◽  
pp. 3410-3416
Author(s):  
J L Pinkham ◽  
L Guarente
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Molecular Analysis ◽  
Carbon Sources ◽  
Direct Integration ◽  
Global Regulator ◽  
Low Levels ◽  
Gene Maps ◽  
Derivatives Of ◽  
In Cells

We report here the cloning of the HAP2 gene, a locus required for the expression of many cytochromes and respiratory functions in Saccharomyces cerevisiae. The cloned sequences were found to direct integration of a marked vector to the chromosomal HAP2 locus, and derivatives of these sequences were shown to yield chromosomal disruptions with a Hap2- phenotype. The gene maps 18 centimorgans centromere proximal to ade5 on the left arm of chromosome VII, distinguishing it from any other previously characterized nuclear petite locus. The HAP2 locus encodes a 1.3-kilobase transcript which is present at extremely low levels and which is derepressed in cells grown in media containing nonfermentable carbon sources. Levels of HAP2 mRNA are not reduced in strains bearing a mutation at the HAP3 locus, which is also required for expression of respiratory functions. Models outlining possible interactions of the products of the HAP2 and HAP3 genes are presented.

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