An unusual occurrence of coronary artery disease with accelerated atherosclerosis in a child with H syndrome is presented herein.[ncbi.nlm.nih.gov]
Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.[ncbi.nlm.nih.gov]
This report describes an insulin-dependent diabetes patient with a syndromic presentation in whom a homozygous SLC29A3 mutation was identified.[ncbi.nlm.nih.gov]
A case is presented and a brief review is introduced based on the few related reports.[ncbi.nlm.nih.gov]
The two patients had hearing loss as their presenting symptom, and had mutations in SLC29A3, one of them a novel mutation.[ncbi.nlm.nih.gov]
The association of cutaneous hyperpigmented, hypertrichotic, and indurated patches associated with hearing loss, shortstature, cardiac anomalies, hepatosplenomegaly, scrotal masses, and hypogonadism has not, to our knowledge, been previously recognized[ncbi.nlm.nih.gov]
It should be considered in patients with shortstature and systemic inflammation, particularly with cutaneous findings.[ncbi.nlm.nih.gov]
The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, shortstature (low height), hyperglycaemia[ncbi.nlm.nih.gov]
If these are lacking, the constellation of additional findings such as hearing loss, fixed flexion contractures of fingers and toes, shortstature and hepatosplenomegaly should raise suspicion for H syndrome.[orpha.net]
The patient had insulin-dependent diabetes, congenital deafness, shortstature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with[ncbi.nlm.nih.gov]
[…] patient had insulin-dependent diabetes, congenital deafness, short stature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever[ncbi.nlm.nih.gov]
SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia.[uniprot.org]
Flu-like symptoms are also usually present during the initial stages, and may include: feeling generally unwell a high temperature (fever) of 38C (100.4F) or above a headache joint pain a cough After a few days a rash appears, which consists of individual[nhs.uk]
Heerfordt syndrome, also known as Heerfordt-Waldenström syndrome or uveoparotid fever, is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown[radiopaedia.org]
There may possibly be: Nausea Vomiting Hiccups Chills Fever Night sweats Headaches General malaise There are often features of acute salpingitis but this is not invariable.[patient.info]
Eye examination showed mild conjunctival injection and arcussenilis. Cervical and inguinal lymph nodes were bilaterally enlarged. He had a small penis (micropenis).[ijdvl.com]
It is characterized by cutaneous hyperpigmentation, camptodactyly or flexioncontractures and other features, among them hearing loss.[ncbi.nlm.nih.gov]
[…] described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion[ncbi.nlm.nih.gov]
If these are lacking, the constellation of additional findings such as hearing loss, fixed flexioncontractures of fingers and toes, short stature and hepatosplenomegaly should raise suspicion for H syndrome.[orpha.net]
The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexioncontractures.[ncbi.nlm.nih.gov]
Prior workup included abdominal radiographs, abdominal ultrasonography, abdominal CT, and gastric biopsy; all are normal. He has mild gastritis and esophagitis on esophagogastroduodenoscopy and mildly delayed gastric emptying.[mdedge.com]
On clinical examination, she had hepatosplenomegaly, generalized lymphadenopathy, leftventricularhypertrophy, sensorineural hearing loss, hypogonadism, short stature, and characteristic dysmorphic features.[ncbi.nlm.nih.gov]
Some patients respond to treatment with biologics alone or in combination with other immune suppressants; in particular, treatment of systemic inflammation with IL-6 blockade appears to be promising.[ncbi.nlm.nih.gov]
After Treatment Get information about how to live well after myelodysplastic syndrome treatment and make decisions about next steps.[cancer.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
How is scientific research on 4H syndrome progressing towards improved treatment or diagnosis? Before treatment strategies can be developed, the genetic basis of the disorder must be elucidated.[ulf.org]
What is the Prognosis of Rosai-Dorfman Disease of Breast? (Outcomes/Resolutions) The prognosis of Rosai-Dorfman Disease of Breast is based on the severity of the signs and symptoms.[dovemed.com]
Prognosis The disease usually runs a variable but progressive course, and early-death has been described. The documents contained in this web site are presented for information purposes only.[orpha.net]
PrognosisPrognosis is generally as for PID. [ 6 ] There may be no symptoms of Fitz-Hugh Curtis syndrome and it is found incidentally at operation at a later date.[patient.info]
[…] subcortical cavitations in the affected hemisphere reduced caliber of ACA, MCA or PCA on the affected side small corpus callosum ipsilateral hemispheric volume loss with a shift of midline structures usually lack hemosiderin on T2*/ SWI Treatment and prognosis[radiopaedia.org]
What is the prognosis of someone with an Ehlers-Danlos Syndrome? The prognosis depends on the type of Ehlers-Danlos syndrome and the individual.[ehlers-danlos.com]
Its etiology remains unclear. The observation of congenital disease and reports of familial cases with seven pairs of siblings including three sets of identical twins suggests a genetic predisposition in some patients with this condition.[ncbi.nlm.nih.gov]
Readers will find essential information on ERS with regard to its etiology, epidemiology, clinical diagnosis and manifestation, genetic background, and risk stratification, as well as the relationship between ERS and Brugada syndrome.[books.google.de]
Etiology H syndrome is caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3) that result in histiocytic infiltration of numerous organs. There are no clear genotype-phenotype correlations for SLC29A3 mutations.[orpha.net]
Type 1 diabetes mellitus (TIDM) has a multifactorial etiology, with major genetic-susceptibility determinants located in the HLA and insulin-gene (INS) regions. Linkage data implicating other disease-susceptibility loci are conflicting.[scinapse.io]
(Etiology) The definitive cause of Rosai-Dorfman Disease of Breast is unknown. It may occur due to an abnormal immune system of the body, caused by a variety of triggers.[dovemed.com]
Epidemiology It typically affects infants and young ...[radiopaedia.org]
Readers will find essential information on ERS with regard to its etiology, epidemiology, clinical diagnosis and manifestation, genetic background, and risk stratification, as well as the relationship between ERS and Brugada syndrome.[books.google.de]
Summary Epidemiology To date, around 100 patients have been described in the world literature. Clinical description H syndrome becomes clinically apparent during childhood and cutaneous features are the most prevalent.[orpha.net]
Epidemiology It affects between 4-14% of women who have PID. The epidemiology tends to mimic that of PID, affecting women of reproductive age and often younger women.[patient.info]
However, it is likely that CHS is under-recognized and under-reported. 2,4,5 CHS symptoms may be misattributed to cyclic vomiting syndrome, 3 because 50% of patients diagnosed with cyclic vomiting syndrome report daily Cannabis use. 6 There is no epidemiological[mdedge.com]
Overall, better identification and understanding of the pathophysiology may help devise earlier diagnosis and better treatment strategies.[ncbi.nlm.nih.gov]
In most cases the pathophysiology is unclear and treatment is nonspecific.[kclpure.kcl.ac.uk]
Overall, better identification and understanding of the pathophysiology may help devise earlier diagnosis and better treatment strategies. Disclosure: J. Bloom, None; C. Lin, None; L. F. Imundo, None; S. Guthery, None; S. Stepenaskie, None; C.[acrabstracts.org]
.: Stiff-man syndrome, a review of the literature, and report of three additional cases and discussion of the pathophysiology and therapy. Mayo Clin. Proc. 39 , 131–144 (1964) Google Scholar 14. Sawaya, M. C. G., Horton, R. W., Meldrum, B.[link.springer.com]
The pathophysiology of the syndrome is also unclear, especially with regards to the effect of cannabinoids on the gut.[en.wikipedia.org]
Causes, Risk Factors, and Prevention Learn about the risk factors for myelodysplastic syndromes and what you might be able to do to help lower your risk.[cancer.org]
Infants who receive a heart transplant will need to take medicines for the rest of their lives to prevent their body from rejecting the new heart. References Parker SE, Mai CT, Canfield MA, et al; for the National Birth Defects Prevention Network.[cdc.gov]
What Can I Do to Prevent HELLP Syndrome? Unfortunately, there's currently no way to prevent this illness.[preeclampsia.org]
[…] is better than cure and early and aggressive termination of seizures is considered the most effective way to prevent post-convulsive hemiplegia 9.[radiopaedia.org]
Guillain-Barre Syndrome Medications Certain drugs such as heparin may be used to prevent blood clotting. Corticosteroids are not used.[emedicinehealth.com]