Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This pilot-study should contribute to the question whether Pyrethroid intoxication can be distinguished from other diseases by characteristic clinical symptoms. The results show that the characteristics of the intoxication do not consist in singular symptoms but in combinations and correlations of symptoms, i.e. of central-neurological with peripheral- and autonomic-neurological as well as with characteristic immunological disturbances. Neurological symptoms consist in cerebro-organic disfunctions, locomotory disorders reminiscent of multiple sclerosis or M. Parkinson, and sensory, motoric and vegetative polyneuropathy, leading, for instance, to cardiovascular regulatory disorder like sympathicotonia or, orthostatic hypotonia. Non-neurological symptoms include immunosuppression with consecutive opportunistic infections, like candida albicans, most frequently of the alimentary tract, but also dermal and mucosal swellings, lichen-ruber-like efflorescences, loss of hair, conjunctivitis. Other symptoms are: hypoglycaemic crises inhibition of fertility, disturbances of blood clotting, and most frequently in children, suspected hematopoetic disorders.
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PMID:[A new method for early detection of neurotoxic diseases (exemplified by pyrethroid poisoning)]. 885 Nov 33

There are two genetically determined biotin-dependent disorders. The first is holocarboxylase synthetase (HCS) deficiency and the second biotinidase deficiency. HCS catalyzes the reaction in which active holocarboxylases are synthesized from inactive apocarboxylases. Biotin is required for this synthesis. Biotinidase facilitates the release and recycling of free biotin. Deficiency of either HCS or biotinidase is characterized by certain neurological, cutaneous and biochemical abnormalities. In this paper, six patients with biotinidase and two patients with HCS deficiency are described. Among the most common neurological findings were hypotonia (6/8), seizures (2/6) and optic atrophy (2/8). Dermatitis and conjunctivitis were present in three and four patients, respectively. All patients had low blood pH bicarbonate levels. Serum lactate was increased in all and pyruvate in six cases. Two patients with biotinidase deficiency presented earlier than the mean age of onset previously reported in the literature. Detection of eight cases during the past few years at a single metabolic unit indicates that biotinidase deficiency is not rare in Turkey, where the frequency of some other metabolic disorders has also been reported to be high. We suggest that biotin-dependent disorders should be considered in all infants with neurological symptoms, particularly those with jerks, even if other signs such as alopecia, seborrheic dermatitis and acidosis are not evident, regardless of the age of presentation.
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PMID:Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. 782 32

The purpose of this article is to report the surgical treatment of two patients. After the filtering surgery a dehiscence of the conjunctiva emerged and was followed by an extreme hypotony of the eyeball and an extensive uveal effusion. The first patient, 82 years old lady, was treated with the diagnosis of chronic open angle glaucoma for 25 years. The right eye with an absolute glaucoma, the left eye had normal intraocular pressure (IOP) and was after a combined filtering surgical procedure with phacoemulsification and posterior chamber intraocular lens (PC IOL) implantation in 1998. In autumn 2000, the patient suffered conjunctivitis, and the prominent filtering bleb was damaged due to frequent rubbing of the eye because of itching. Severe hypotony of the eyeball with secondary uveal effusion followed. Considering the age of the patient and the only functional eye, an extreme surgery was indicated: PC IOL explantation (removal), pars plana vitrectomy (ppV) with silicone oil implantation. After the surgery the eyeball was anatomically stabilized and the VA (visual acuity) improved from initial uncertain light perception to 0.08 (1/12 or 3/36) and certain light perception. The second patient, 35 years old man suffered in 1995 a serious penetrating injury with an intraocular foreign body of the right globe. During the following five years the patient underwent in altogether six intraocular surgeries due to posttraumatic cataract and rhegmatogenous and tractional detachment of the retina. In the year 2000, trabeculectomy due to secondary glaucoma was indicated and 8 months later, on patients demand an anterior chamber intraocular lens (AC IOL) was implanted. During the first week after the surgery severe hypotonia of the globe and secondary uveal effusion caused by conjunctival dehiscence in the upper nasal quadrant of the eyeball developed. Because of complicated ocular history of the patient who underwent on the whole eight eye surgeries a relative minimal procedure was indicated: AC IOL removal and insufflation of 1 ml of 100% hexafluorosulfide (SF6) expansive gas into the anterior chamber and vitreous cavity. The globe was stabilized and the VA (visual acuity) improved from initial uncertain light perception to 0.25 (6/24 or 20/80) with certain light perception.
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PMID:[Treatment of uveal effusion syndrome after filtering surgery (2 case reports)]. 1518 52

Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states.
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PMID:Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. 2105 Dec 54

Although adenoviruses (AdVs) generally cause upper respiratory tract infections, conjunctivitis/epidemic keratoconjunctivitis, gastroenteritis and pneumonia, they can lead to the involvement of central nervous system. Acute flaccid paralysis (AFP) is a type of seizure, characterized by rapid and sudden onset of extreme weakness in hands and feet, including (less frequently) weakness of respiratory and swallowing, representing with decreased muscle tone, especially in children below 15-year-old. The major viral cause of AFP is polioviruses, however non-polio enteroviruses, mumps virus, rabies virus and flaviviruses can also be responsible for AFP. The data of some recent studies have pointed out the probable aetiological role of AdVs in AFP. The aim of this study was to investigate the frequency of AdVs from stool samples of AFP-suspected patients and their contacts. A total of 6130 stool samples from patients (age range: 0-15 years) prediagnosed as AFP (n= 3185) and their contacts (n= 2945), which were sent to our laboratory from the health care centers located at different regions of Turkey for the monitorization of poliomyelitis as part of national AFP surveillance programme, between 2000-2014, have been retrospectively evaluated in terms of adenovirus isolation frequency. Samples were analyzed according to the algorithm recommended by World Health Organization and inoculated in Hep-2, RD, and L20B cell lines for cultivation. Apart from enteroviruses, in case of the presence of characteristic cytopathic effects for AdVs observed in L20B cells were confirmed by a commercial Adeno agglutination kit (Diarlex Adeno; Orion Diagnostica, Finland). It was noted that AdVs have been isolated from 1.6% (97/6130) of the samples, and out of positive samples 76.3% (74/97) were from AFP-suspected cases, while 23.7% (23/97) were from their contacts. Accordingly the frequencies of AdVs from AFP-suspected cases and their contacts were found as 2.3% (74/3185) and 0.8% (23/2945), respectively. The frequencies of Adenovirus positivity between the patients and their contacts were statistically significant (Z-Score 4.8347; p< 0.05). It was determined that 52.6% of the detected AdVs among AFP-suspected cases were between 1-4 age group and the positivity was 1.6 times more among males than the females. Although the data of this study are in agreement with the studies that support the relationship of AdVs with AFP, it is obvious that further molecular and clinical studies are needed.
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PMID:[Investigation of adenovirus isolation frequency from the stool samples of patients suspected with acute flaccid paralysis]. 2717 1