Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after one year of age

2021 ◽  
Author(s):  
Natsuko Arai‐Ichinoi ◽  
Atsuo Kikuchi ◽  
Yoichi Wada ◽  
Osamu Sakamoto ◽  
Shigeo Kure
Keyword(s):  
Growth Failure ◽  
Citrin Deficiency ◽  
One Year

scholarly journals Pattern and Clinical Profile of Congenital Heart Disease in A Teaching Hospital

1970 ◽  
Vol 21 (1) ◽  
pp. 58-62 ◽  
Author(s):  
L Shamima Sharmin ◽  
M Azizul Haque ◽  
M Iqbal Bari ◽  
M Ayub Ali
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Hospital Stay ◽  
Congenital Heart ◽  
Growth Failure ◽  
Female Child ◽  
Feeding Problems ◽  
Medical College ◽  
One Year ◽  
A Prospective Study

Objectives: To see the (a) type of congenital heart disease, (b) Clinical presentation of the cases, (c) association with extra-cardiac anomalies and disease, (d) complications of different CHD, (e) outcome of patients during hospital stay. Methodology: it was a prospective study conducted in the department of pediatrics of Rajshahi Medical College & Hospital over a period of one year.115 children from birth to 12 years of age who had congenital heart disease confirmed by echocardiography were included. All patients were treated conservatively and observed for immediate out come during the hospital stay. Result: major types of CHD were VSD (42.6%), TOF (18.3%), ASD (14.8%), PDA (7.8%). Male outnumbers female child. Common symptoms were breathlessness (60%), fatigue (54.8%), cough (43.5%), poor weight gain (41.7%), recurrent chest infection (34.8%), fever (28.7%), feeding problems (26.1%), palpitation (21.7%) and bluish discoloration of lips and fingertips (20%). Murmur with or without thrill and cardiomegaly was the most important cardiac finding. Frequently observed complications were heart failure, pulmonary hypertension and growth failure.   doi: 10.3329/taj.v21i1.3221 TAJ 2008; 21(1): 58-62

scholarly journals Citrin Deficiency Mimicking Mitochondrial Depletion Syndrome

2020 ◽  
Author(s):  
Sarah Catharina Grünert ◽  
Anke Schumann ◽  
Peter Freisinger ◽  
Stefanie Rosenbaum-Fabian ◽  
Miriam Schmidts ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Severe Hypoglycemia ◽  
Dietary Treatment ◽  
Inner Mitochondrial Membrane ◽  
Gene Encoding ◽  
Whole Exome ◽  
Lactate Levels ◽  
Citrin Deficiency ◽  
One Year ◽  
Rare Inborn Error

Abstract BackgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.Results We report on two siblings of Romanian-Vietnamese ancestry with citrin deficiency. Patient 1 is a female who presented at age 8 weeks with cholestasis, elevated lactate levels and recurrent severe hypoglycemia. Diagnosis was made by whole exome sequencing and revealed compound heterozygosity for the frameshift variant c.852_855del, p.Met285Profs*2 and a novel deletion c.(69+1_70-1)_(212+1_231-1)del in SLC25A13. The girl responded well to dietary treatment with a lactose-free, MCT-enriched formula. Her younger brother (Patient 2) was born one year later and also found to be carrying the same gene variants. Dietary treatment from birth was able to completely prevent clinical manifestation until his current age of 4.5 months.ConclusionAs CD is a well-treatable disorder it should be ruled out early in the differential diagnosis of neonatal cholestasis. Due to the combination of hepatopathy, lactic acidosis and recurrent hypoglycemia the clinical presentation of CD may resemble hepatic mitochondrial depletion syndrome.

DIAGNOSIS AND TREATMENT OF PATENT DUCTUS ARTERIOSUS IN INFANCY

PEDIATRICS ◽  
1953 ◽  
Vol 12 (6) ◽  
pp. 664-674
Author(s):  
PAUL ADAMS ◽  
FORREST H. ADAMS ◽  
RICHARD L. VARCO ◽  
J. FRANCIS DAMMANN ◽  
WILLIAM H. MULLER
Keyword(s):  
Mortality Rate ◽  
Patent Ductus Arteriosus ◽  
Cardiac Catheterization ◽  
Marked Improvement ◽  
Ductus Arteriosus ◽  
Growth Failure ◽  
Surgical Closure ◽  
One Year ◽  
Special Studies ◽  
Patent Ductus

A large patent ductus arteriosus can produce obvious cardiac difficulty and death in infancy. The diagnosis of a patent ductus arteriosus in infancy can be difficult in the absence of a continuous murmur. In such instances special studies such as cardiac catheterization or retrograde aortography should be performed to establish the diagnosis. Surgical closure of the patent ductus arteriosus can and should be performed in those infants with symptoms and findings of cardiac difficulty—dyspnea, cardiomegaly, murmur, and marked growth failure. Data have been presented on 16 infants with patent ductus arteriosus in whom surgical closure of the patent ductus arteriosus was deemed necessary before 18 months of age. Of the 16 infants, one died during surgery (6% mortality rate) and the remaining showed marked improvement following surgery. Postoperative rate of growth was variable in patients followed one year or less, consistently improved in those followed 1½ years or more.

scholarly journals Can growth hormone treatment improve growth in children with severe growth failure due to anorexia nervosa? A preliminary pilot study

2017 ◽  
Vol 6 (8) ◽  
pp. 839-846 ◽  
Author(s):  
Juliane Léger ◽  
Anne Fjellestad-Paulsen ◽  
Anne Bargiacchi ◽  
Catherine Doyen ◽  
Emmanuel Ecosse ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Adult Height ◽  
Controlled Trial ◽  
Growth Failure ◽  
Rare Condition ◽  
Height Velocity ◽  
Delayed Puberty ◽  
Gh Treatment ◽  
One Year ◽  
Severe Growth

Background/Aims Growth failure is a difficult but key aspect of care in children with anorexia nervosa (AN). The effects of hGH therapy have not been studied. The aim was to investigate the effect of hGH treatment on height velocity (HV) in children with AN. Methods We carried out a retrospective observational study. Ten girls diagnosed with AN at 10.0 ± 1.9 years, with prolonged severe growth failure (HV < 2.5 cm/year for at least 18 months) at the age of 13.3 ± 1.1 years and delayed puberty after nutritional rehabilitation, were treated with hGH (0.040 mg/kg/day) from a bone age of 10.9 ± 1.7 years until they reached adult height. Height and HV were measured before treatment and at 12-month intervals during treatment. Results Mean body mass index SDS remained unchanged, but HV increased significantly, from a median of 1.0 (0.7–2.1) to 7.1 (6.0–9.5) cm/year after one year (P < 0.002) and 5.6 (4.8–6.2) cm/year after two years of treatment. Height SDS increased from −2.2 ± 1.3 to −1.6 ± 1.3 after one year (P < 0.002) and −1.1 ± 1.5 after two years of GH treatment. Adult height (−0.1 ± 1.0 SDS) was close to target height after 3.6 ± 1.4 years of GH treatment. Serum IGF-I levels increased significantly during treatment (P < 0.01). The treatment was well tolerated. Conclusions This proof-of-concept study shows that hGH treatment is associated with significant improvements in linear growth in adolescents with AN and severe growth failure. A randomized placebo-controlled trial is required to determine the ultimate impact of GH treatment in patients with this severe, rare condition.

scholarly journals Majewski osteodysplastic primordial dwarfism type II (MOPD-II): A rare case report

2019 ◽  
Vol 9 (3) ◽  
pp. 254-256
Author(s):  
Rezwana Sobhan ◽  
Hafsa Hasan Khan ◽  
Md Faruque Pathan ◽  
Faria Afsana ◽  
Feroz Amin
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Growth Failure ◽  
Interesting Case ◽  
Type Ii ◽  
Severe Scoliosis ◽  
Primordial Dwarfism ◽  
Rare Case Report ◽  
History Of ◽  
One Year

Majewski osteodysplastic primordial dwarfism type II (MOPD-II) is a rare syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing personality and skeletal dysplasia, renal, hematopoietic abnormalities, cerebral vascular anomalies (aneurysm and Moyamoya disease). It is an autosomal recessive syndrome with equal gender occurrence involving the DNA damage-response PCNT gene. Here is an interesting case report of a 15-year-old boy, who presented with growth failure since age of one year, noticed by his parents with history of low birth weight (1.5 kg), delayed developmental milestones, microcephaly, low IQ and difficulty in walking due to short left leg. He had bird like head with beaked nose, crowding of teeth and malocclusion. Complete blood picture and hormonal analysis are within normal range except low growth hormone, typical radiographic features including severe scoliosis and dislocation of hip correlated with MOPD-II. Growth hormone therapy was thought to be ineffective. Genetic counselling is important to prevent the occurrence of MOPD-II. Birdem Med J 2019; 9(3): 254-256

Between ‘Savage Man’ and ‘Most Faithful Englishman’ Manteo and the Early Anglo-Indian Exchange, 1584–1590

Itinerario ◽  
2000 ◽  
Vol 24 (2) ◽  
pp. 146-169 ◽  
Author(s):  
Michael Leroy Oberg
Keyword(s):  
North Carolina ◽  
Chesapeake Bay ◽  
One Year ◽  
Anglo Indian

In August of 1587 Manteo, an Indian from Croatoan Island, joined a group of English settlers in an attack on the native village of Dasemunkepeuc, located on the coast of present-day North Carolina. These colonists, amongst whom Manteo lived, had landed on Roanoke Island less than a month before, dumped there by a pilot more interested in hunting Spanish prize ships than in carrying colonists to their intended place of settlement along the Chesapeake Bay. The colonists had hoped to re-establish peaceful relations with area natives, and for that reason they relied upon Manteo to act as an interpreter, broker, and intercultural diplomat. The legacy of Anglo-Indian bitterness remaining from Ralph Lane's military settlement, however, which had hastily abandoned the island one year before, was too great for Manteo to overcome. The settlers found themselves that summer in the midst of hostile Indians.

Some Biological Applications of High Voltage Electron Microscopy

1974 ◽  
Vol 32 ◽  
pp. 298-299
Author(s):  
Hans Ris
Keyword(s):  
High Voltage ◽  
Chromosome Structure ◽  
Nerve Fibers ◽  
Good Resolution ◽  
High Voltage Electron Microscopy ◽  
Voltage Electron ◽  
University Of Wisconsin ◽  
High Voltage Electron ◽  
One Year ◽  
The University

The High Voltage Electron Microscope Laboratory at the University of Wisconsin has been in operation a little over one year. I would like to give a progress report about our experience with this new technique. The achievement of good resolution with thick specimens has been mainly exploited so far. A cold stage which will allow us to look at frozen specimens and a hydration stage are now being installed in our microscope. This will soon make it possible to study undehydrated specimens, a particularly exciting application of the high voltage microscope.Some of the problems studied at the Madison facility are: Structure of kinetoplast and flagella in trypanosomes (J. Paulin, U. of Georgia); growth cones of nerve fibers (R. Hannah, U. of Georgia Medical School); spiny dendrites in cerebellum of mouse (Scott and Guillery, Anatomy, U. of Wis.); spindle of baker's yeast (Joan Peterson, Madison) spindle of Haemanthus (A. Bajer, U. of Oregon, Eugene) chromosome structure (Hans Ris, U. of Wisconsin, Madison). Dr. Paulin and Dr. Hanna are reporting their work separately at this meeting and I shall therefore not discuss it here.

Osseointegration interface of calcified bone and endosseous implants

1992 ◽  
Vol 50 (2) ◽  
pp. 1096-1097
Author(s):  
K.E. Krizan ◽  
J.E. Laffoon ◽  
M.J. Buckley
Keyword(s):  
Structure And Function ◽  
Titanium Implants ◽  
En Bloc ◽  
Endosseous Implants ◽  
Ultrastructural Studies ◽  
The Past ◽  
Cacodylate Buffer ◽  
One Year ◽  
And Function

With increase use of tissue-integrated prostheses in recent years it is a goal to understand what is happening at the interface between haversion bone and bulk metal. This study uses electron microscopy (EM) techniques to establish parameters for osseointegration (structure and function between bone and nonload-carrying implants) in an animal model. In the past the interface has been evaluated extensively with light microscopy methods. Today researchers are using the EM for ultrastructural studies of the bone tissue and implant responses to an in vivo environment. Under general anesthesia nine adult mongrel dogs received three Brånemark (Nobelpharma) 3.75 × 7 mm titanium implants surgical placed in their left zygomatic arch. After a one year healing period the animals were injected with a routine bone marker (oxytetracycline), euthanized and perfused via aortic cannulation with 3% glutaraldehyde in 0.1M cacodylate buffer pH 7.2. Implants were retrieved en bloc, harvest radiographs made (Fig. 1), and routinely embedded in plastic. Tissue and implants were cut into 300 micron thick wafers, longitudinally to the implant with an Isomet saw and diamond wafering blade [Beuhler] until the center of the implant was reached.

Effectiveness of a 24-hour nicotine patch in conjunction with a cognitive behavioural programme: one year outcome transdermal

Addiction ◽  
1997 ◽  
Vol 92 (1) ◽  
pp. 27-31
Author(s):  
Robyn L. Richmond ◽  
Linda Kehoe ◽  
Abilio Cesar De Almeida Neto
Keyword(s):  
Nicotine Patch ◽  
Cognitive Behavioural ◽  
One Year
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