Skip header and navigation

Refine By

51 records – page 1 of 6.

Acute liver failure meets SOPH syndrome: A case report on an intermediate phenotype.

https://arctichealth.org/en/permalink/ahliterature283558
Source
Pediatrics. 2017 Jan;139(1)
Publication Type
Article
Date
Jan-2017
Author
Fanny Kortüm
Iris Marquardt
Malik Alawi
Georg Christoph Korenke
Stephanie Spranger
Peter Meinecke
Kerstin Kutsche
Source
Pediatrics. 2017 Jan;139(1)
Date
Jan-2017
Language
English
Publication Type
Article
Keywords
Alleles
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities - diagnosis - genetics
Dwarfism - diagnosis - genetics
Exome - genetics
Female
Heterozygote Detection
Humans
Liver Failure, Acute - diagnosis - genetics
Mutation, Missense - genetics
Neoplasm Proteins - deficiency - genetics
Optic Atrophy - diagnosis - genetics
Pelger-Huet Anomaly - diagnosis - genetics
Phenotype
Syndrome
Abstract
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes. Previously, biallelic mutations in NBAS have been reported to be associated with a syndrome comprising short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) specifically occurring in the Yakut population. No hepatic phenotype has been observed in individuals with this disorder who all carry the homozygous NBAS founder mutation c.5741G>A [p.(Arg1914His)]. We present the case of a 4-year-old girl with the cardinal features of SOPH syndrome: characteristic facial dysmorphism, postnatal growth retardation, delay of bone age, slender long bones, optic atrophy, and Pelger-Huët anomaly. During the first 2 years of her life, a series of infections with episodes of fever were accompanied by elevated liver enzyme levels, but hyperammonemia, hypoglycemia, coagulopathy, or encephalopathy suggestive of acute and severe liver disease were never observed. Whole exome sequencing in the patient revealed compound heterozygosity of the 2 NBAS variants, p.(Arg1914His) and p.(Glu943*). This case highlights the variability of clinical presentation associated with NBAS deficiency. Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF.
PubMed ID
28031453 View in PubMed
Less detail

Alaskan Malamute chondrodysplasia III. Connective tissue of bone.

https://arctichealth.org/en/permalink/ahliterature7019
Source
Growth. 1977 Sep;41(3):207-14
Publication Type
Article
Date
Sep-1977
Author
R G Brown
G N Hoag
R E Subden
M E Smart
Source
Growth. 1977 Sep;41(3):207-14
Date
Sep-1977
Language
English
Publication Type
Article
Keywords
Animals
Bone and Bones - analysis
Dog Diseases - metabolism
Dogs
Dwarfism - metabolism - veterinary
Hexosamines - analysis
Hydroxyproline - analysis
Research Support, U.S. Gov't, P.H.S.
Abstract
The dwarf Alaskan Malamute was compared in these studies with normal Alaskan Malamutes of the same age with regard to collagen and mucopolysaccharide components of the bone. The hydroxyproline concentration of bone segments was normal in most instances, whereas, the hexosamine concentration was increased (P less than .05) in distal segments. Alterations in amounts of collagen soluble in neutral salt, dilute acid and 5 M guanidine hydrochloride were observed and these were related to changes in subunits found following chromatography on carboxymethyl (CM) cellulose. The presence of an increased keratosulfate fraction in dwarf Alaskan Malamutes was consistent with an apparent delayed bone ossification process. These changes in the connective tissue moieties may account for the gross morphology with respect to the bowed legs. The primary cause for these changes has not yet been determined but alterations in factors related to processes of normal development in bone are suggested. The present observations tend to support the hypothesis that the changes in the bone are secondary to some other primary metabolic defect.
PubMed ID
914056 View in PubMed
Less detail

[Attempt to use the genetically engineered growth hormone SAIZEN in children with somatotropic insufficiency: results of clinical trials in Russia].

https://arctichealth.org/en/permalink/ahliterature217071
Source
Probl Endokrinol (Mosk). 1994 Nov-Dec;40(6):30-4
Publication Type
Article
Author
I I Dedov
V A Peterkova
N P Goncharov
T I Buraia
O V Fofanova
S S Pankova
A I Bukhman
Source
Probl Endokrinol (Mosk). 1994 Nov-Dec;40(6):30-4
Language
Russian
Publication Type
Article
Keywords
Child
Dwarfism - blood - drug therapy
Female
Growth Hormone - adverse effects - deficiency - therapeutic use
Human Growth Hormone
Humans
Male
Protein Engineering
Recombinant Proteins - adverse effects - therapeutic use
Russia
Abstract
The efficacy and safety of SAISEN, a recombinant human growth hormone obtained from mammalian cells, was tested in children with hypophyseal nanism. The treatment duration was 1 year. The results indicate that SAISEN (ARES-SERONO) is a highly effective and safe preparation of growth hormone, noticeably stimulating the growth rate both in previously untreated children with somatotropic insufficiency, and in those previously treated with STH preparations. Therapy with SAISEN was not associated with any side effects, as shown by both clinical and laboratory data.
PubMed ID
7740034 View in PubMed
Less detail

Bone status and fracture prevalence in Russian adults with childhood-onset growth hormone deficiency.

https://arctichealth.org/en/permalink/ahliterature178036
Source
J Clin Endocrinol Metab. 2004 Oct;89(10):4993-8
Publication Type
Article
Date
Oct-2004
Author
R. Bouillon
E. Koledova
O. Bezlepkina
J. Nijs
E. Shavrikhova
E. Nagaeva
O. Chikulaeva
V. Peterkova
I. Dedov
A. Bakulin
V. Oganov
A F Attanasio
Author Affiliation
Katholieke Universiteit Leuven, Laboratory of Experimental Medicine and Endocrinology, B-3000 Leuven, Belgium. Roger.Bouillon@med.kuleuven.ac.be
Source
J Clin Endocrinol Metab. 2004 Oct;89(10):4993-8
Date
Oct-2004
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Bone Density
Bone and Bones - pathology
Child
Dwarfism, Pituitary - epidemiology - pathology
Female
Fractures, Bone - epidemiology - pathology
Humans
Incidence
Male
Middle Aged
Prevalence
Risk factors
Russia - epidemiology
Abstract
The consequences of lifelong untreated childhood-onset GH deficiency (COGHD) on adult bone and especially fracture prevalence are largely unknown due to the lack of data on long-term outcome of untreated patients. Therefore, we studied adult Russian patients (n = 66; 28 females and 38 males) with idiopathic GH-untreated COGHD. Patients had isolated GH deficiency (IGHD; n = 18, age 23 +/- 10 yr) or multiple pituitary hormone deficiency (MPHD) with open (OMPHD; n = 27, age 23 +/- 5 yr) or closed growth plates (CMPHD; n = 21, age 55 +/- 12 yr). Bone mineral content (BMC) and bone mineral density (BMD) values were compared with 821 normal Russian controls. Fracture prevalence was ascertained from medical history and compared with similar data from 333 normal controls. Height sd score was -4.6 (range, -1.8 to -8.1). This represents 82% of the height of normal Russian adults. BMC of the lumbar spine, femoral neck, and total body of patients with IGHD was 54, 71, and 59%, respectively, of that of age- and sex-matched controls (all P
PubMed ID
15472196 View in PubMed
Less detail

Campomelic dysplasia--an underdiagnosed condition?

https://arctichealth.org/en/permalink/ahliterature59510
Source
Eur J Pediatr. 1993 Apr;152(4):331-3
Publication Type
Article
Date
Apr-1993
Author
E K Normann
J C Pedersen
G. Stiris
C B van der Hagen
Author Affiliation
Department of Paediatrics, Aker University Hospital, Oslo, Norway.
Source
Eur J Pediatr. 1993 Apr;152(4):331-3
Date
Apr-1993
Language
English
Publication Type
Article
Keywords
Dwarfism - diagnosis - epidemiology
Female
Humans
Incidence
Infant, Newborn
Norway - epidemiology
Abstract
Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in our observation period of 2.2 per 10,000. Eliminating our first case, because of Pakistani decent, the total incidence is 1.6 per 10,000 among Norwegian infants which is much higher than the incidence previously mentioned. Perhaps CD is under-reported and a high proportion of patients remain undiagnosed. We present four cases and discuss the incidence.
PubMed ID
8482284 View in PubMed
Less detail

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

https://arctichealth.org/en/permalink/ahliterature223206
Source
J Med Genet. 1992 Sep;29(9):652-5
Publication Type
Article
Date
Sep-1992
Author
O. Mäkitie
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
J Med Genet. 1992 Sep;29(9):652-5
Date
Sep-1992
Language
English
Publication Type
Article
Keywords
Cartilage Diseases - epidemiology - genetics
Consanguinity
Dwarfism - epidemiology - genetics
Female
Finland - epidemiology
Gene Frequency
Genes, Recessive
Hair Diseases - epidemiology - genetics
Humans
Immunity, Cellular
Immunologic Deficiency Syndromes - epidemiology - genetics
Incidence
Male
Pedigree
Syndrome
Abstract
Cartilage-hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia characterised by short limbed short stature, hypoplastic hair growth, and impaired cell mediated immunity and erythrocyte production. The syndrome is exceptionally prevalent among the Finns and among the Old Order Amish in the United States; sporadic cases have been reported from other countries. An epidemiological and genetic study of CHH in Finland showed 107 patients, 46 males and 61 females, in 85 families. Eighteen of them had died, seven before the age of 1 year. The living patients ranged in age from 1 to 51 years, median 21 years. The incidence was estimated to be 1:23,000 live births. Consanguinity was found in two families and interfamilial relationships in 20 families. Geographical distribution of the birth places of the patients and their great grandparents showed accumulation in a small area in western Finland and regional clusters were seen in other parts of the country as well. The result of the segregation analysis was in accordance with recessive inheritance with reduced penetrance.
Notes
Cites: Helv Paediatr Acta. 1972 Jul;27(3):241-514645650
Cites: Arch Kinderheilkd. 1967 Aug;176(1):74-855595240
Cites: J Bone Joint Surg Am. 1968 Sep;50(6):1245-95675408
Cites: Eur J Pediatr. 1980 Oct;135(1):55-86450048
Cites: Prog Clin Biol Res. 1982;104:427-407163284
Cites: Monatsschr Kinderheilkd. 1980 Mar;128(3):157-97366585
Cites: Bull Johns Hopkins Hosp. 1965 May;116:285-32614284412
Cites: Postgrad Med J. 1977 Aug;53(622):473-9917962
Cites: Pediatr Res. 1978 Oct;12(10):961-6724297
Cites: Ann Pediatr (Paris). 1991 Jan;38(1):27-302006830
Cites: Clin Immunol Immunopathol. 1986 Jul;40(1):87-933521972
Cites: Pediatr Res. 1992 Feb;31(2):176-801542548
Cites: Ann Genet. 1990;33(2):99-1022241093
Cites: Ann Pediatr (Paris). 1989 Jun;36(6):390-22757330
Cites: Ann Clin Res. 1973 Jun;5(3):109-414584134
Cites: Proc R Soc Med. 1972 Aug;65(8):7275085968
Cites: Clin Pediatr (Phila). 1970 Jan;9(1):44-65410371
Cites: Am J Hum Genet. 1968 Jan;20(1):61-815635671
Cites: Med Infant (Paris). 1965 Aug-Sep;72(7):493-95847508
Cites: Br Med J (Clin Res Ed). 1982 Nov 20;285(6353):1461-36814601
Cites: Johns Hopkins Med J. 1981 Apr;148(4):157-646970848
Cites: Pediatria (Napoli). 1981 Mar 31;89(1):41-517290827
Cites: Lancet. 1964 Apr 11;1(7337):832-314108025
Cites: Trans Assoc Am Physicians. 1964;77:151-6814275412
PubMed ID
1404295 View in PubMed
Less detail

Cervical kyphosis in diastrophic dysplasia.

https://arctichealth.org/en/permalink/ahliterature200514
Source
Spine (Phila Pa 1976). 1999 Oct 1;24(19):1990-5
Publication Type
Article
Date
Oct-1-1999
Author
V. Remes
E. Marttinen
M. Poussa
I. Kaitila
J. Peltonen
Author Affiliation
Hospital for Children and Adolescents, Helsinki University Central Hospital, Finland. ville.remes@helsinki.fi
Source
Spine (Phila Pa 1976). 1999 Oct 1;24(19):1990-5
Date
Oct-1-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Distribution
Cervical Vertebrae - pathology - radiography
Child
Child, Preschool
Dwarfism
Female
Finland - epidemiology
Humans
Infant
Infant, Newborn
Kyphosis - complications - epidemiology - radiography
Male
Middle Aged
Osteochondrodysplasias - complications - epidemiology - radiography
Prevalence
Abstract
An evaluation of cervical kyphosis in diastrophic dysplasia from newborn to adult life.
To discover the prevalence and natural history of cervical kyphosis in diastrophic dysplasia.
Typical findings in this rare skeletal dysplasia are sport-limbed short stature, multiple joint contractures, early degeneration of joints, and spinal deformities such as cervical kyphosis, scoliosis, and exaggerated lumbar lordosis. In diastrophic dysplasia, spontaneous resolution of cervical kyphosis has been reported, but so have severe forms causing medullar compression leading to quadriplegia and death. The prevalence and clinical outcome of the kyphosis are not known.
The radiographic natural history of the cervical spine was studied in 120 patients. They varied in age from newborns to 63-year-olds. The average follow-up time in 26 living patients with cervical kyphosis was 10.0 years.
Midcervical kyphosis was noted in 29 patients (24%) in their first radiograph. In 25 patients, the first radiographs were taken before the age of 18 months, and 24 of these patients (96%) had cervical kyphosis. The most severe case was that of a 32-year-old patient with a 165 degrees kyphosis. In the 24 patients, the kyphosis resolved spontaneously at an average age of 7.1 years. Three patients with a severe kyphosis died; one patient is alive. One patient, a 4-year-old child has mild resolving deformity.
Cervical kyphosis in diastrophic dysplasia usually is shown at the time of birth. It resolves spontaneously during growth and seldom needs treatment. Careful follow-up study and treatment, if necessary, are important tools for avoiding the neurologic problems and fatal outcome.
PubMed ID
10528373 View in PubMed
Less detail

Chondrodysplasia in the Alaskan malamute. Characterization of proteoglycans dissociatively extracted from dwarf growth plates.

https://arctichealth.org/en/permalink/ahliterature6955
Source
Lab Invest. 1985 Oct;53(4):479-85
Publication Type
Article
Date
Oct-1985
Author
S A Bingel
R D Sande
T N Wight
Source
Lab Invest. 1985 Oct;53(4):479-85
Date
Oct-1985
Language
English
Publication Type
Article
Keywords
Animals
Chromatography, High Pressure Liquid
Dog Diseases - metabolism
Dogs
Dwarfism - veterinary
Glycosaminoglycans - analysis
Growth Plate - metabolism
Molecular Weight
Osteochondrodysplasias - veterinary
Proteoglycans - metabolism
Radius
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Ulna
Abstract
Proteoglycan monomers obtained from the dissociative extraction of growth plate cartilages of chondrodysplastic and homozygous nonaffected Alaskan malamute dogs were characterized with regard to hydrodynamic size and glycosaminoglycan composition. Dissociative extraction solubilized 91.7% of the uronic acid and 71.7% of the protein from dwarf growth plates compared to 76.8% of the uronic acid and 50.2% of the protein from normal growth plates. Dissociative density gradient ultracentrifugation of the extracts resulted in the recovery of 84% of the uronic acid from dwarf growth plates and 71% of the uronic acid from normal growth plates in the D1 fraction. High-pressure liquid chromatography of the dwarf D1 monomers revealed a single peak with a retention time of 8.6 minutes while the normal D1 monomers eluted later with a retention time of 8.9 minutes. After reduction of the dwarf D1 monomers, the chondroitin sulfate side chains eluted from Sepharose CL-6B with an approximate molecular weight of 15,000 (Kav of 0.55) while those from the normal eluted with an estimated molecular weight of 9,500 (Kav of 0.64). High-pressure liquid chromatography analysis of the unsaturated disaccharides from the dwarf D1 fractions revealed increased amounts of chondroitin-6-sulfate. Analysis of the fractions for glucosamine and galactosamine revealed that dwarf D1 and D2 fractions were enriched in galactosamine. These findings indicate that the extracellular matrices of dwarf growth plates contain proteoglycan monomers which may be indicative of a less mature extracellular cartilage matrix than the cartilage matrices of age-matched normal dogs.
PubMed ID
4046558 View in PubMed
Less detail

51 records – page 1 of 6.