Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

PubMed

Skyllouriotis, M L; Marx, M; Bittner, R E; Skyllouriotis, P; Gross, M; Wimmer, M

1997-07-01

We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

Postural Control in Children, Teenagers and Adults with Down Syndrome

ERIC Educational Resources Information Center

Rigoldi, Chiara; Galli, Manuela; Mainardi, Luca; Crivellini, Marcello; Albertini, Giorgio

2011-01-01

The goal of this work was to analyze postural control in Down syndrome (DS) participants considering three different groups composed by children, teenagers and adults with DS. An analysis of the centre of pressure (COP) displacement during standing position was therefore performed for the three groups of subjects. The obtained signal of COP was…

[Postural tachycardia syndrome (PoTS): An up-to-date].

PubMed

Astudillo, L; Laure, A; Fabry, V; Pugnet, G; Maury, P; Labrunée, M; Sailler, L; Pavy-Le Traon, A

2018-06-13

Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. This syndrome can be explained by many pathophysiological mechanisms. It can be associated with Ehlers-Danlos disease and some autoimmune disorders. The treatment is based on nonpharmacological measures and treatment with propranolol, fludrocortisone or midodrine. Copyright © 2018 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Iron Deficiency in Autism and Asperger Syndrome.

ERIC Educational Resources Information Center

Latif, A.; Heinz, P.; Cook, R.

2002-01-01

Retrospective analysis of the full blood count and, when available, serum ferritin measurements of 96 children (52 with autism and 44 with Asperger syndrome) found six autistic children had iron deficiency and 12 of the 23 autistic children with serum ferritin measures were iron deficient. Far fewer Asperger children were iron deficient. Results…

Impairments of postural stability, core endurance, fall index and functional mobility skills in patients with patello femoral pain syndrome.

PubMed

Yilmaz Yelvar, Gul Deniz; Çirak, Yasemin; Dalkilinç, Murat; Demir, Yasemin Parlak; Baltaci, Gul; Kömürcü, Mahmut; Yelvar, Gul Deniz Yilmaz

2016-06-30

Postural control allows performance of daily and sports activities. The previous studies show that postural sway inceases in orthopaedic injuries such as osteoarthritis and total knee arthroplasty. To compare postural sway, risk of falling and function between individuals with and without patellofemoral pain syndrome (PFS). This study included 22 subjects with patellofemoral pain syndrome, age-matched pain-free 22 females serving as a control group. Visual anolog scale and Kujala were used to evaluate the pain. Posturographic assesment was performed by Tetrax posturographic device. Biering Modified Sorenson test for extensor endurance and sit-up test for flexor endurance were used for the evaluation of trunk endurance. Timed get-up and go test was used for lower extremity function. The Student's t Test was used to compare variables between the groups. The Pearson correlation coefficients were calculated to examine correlation between the quantitative variables. Postural sway included eyes open without pillow, eyes open on pillow, eyes closed on pillow, risk of falling, function and postural stabilization included flexor endurance, extansor endurance are impared in patient with patellofemoral pain syndrome when compare to controls. In subjects with PFPS increased postural sway significantly associated with body mass index (r= 0.52), pain duration (r= 0.43), postural control (extansor endurance) (r= -0.50) and risk of falling (r= 0.62) on pillow with open eyes. In addition we found function significantly related with postural control (extansor endurance and flexor endurance) (r= -0.59 and r= -0.59) and risk of falling (r= 0.77)CONCLUSIONS: Decreased neuromuscular control of the trunk core and increased postural sway and falling risk were found in patients with PFPS. Patients may be evaluated for deficits in postural control and falling risk before treatment.

Relationships between Task-Oriented Postural Control and Motor Ability in Children and Adolescents with Down Syndrome

ERIC Educational Resources Information Center

Wang, Hui-Yi; Long, I-Man; Liu, Mei-Fang

2012-01-01

Individuals with Down syndrome (DS) have been characterized by greater postural sway in quiet stance and insufficient motor ability. However, there is a lack of studies to explore the properties of dynamic postural sway, especially under conditions of task-oriented movement. The purpose of this study was to investigate the relationships between…

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

PubMed Central

Torres, Rosa J; Puig, Juan G

2007-01-01

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent). Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay), and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts) and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The lack of precise

Evaluation of posture and pain in persons with benign joint hypermobility syndrome.

PubMed

Booshanam, Divya S; Cherian, Binu; Joseph, Charles Premkumar A R; Mathew, John; Thomas, Raji

2011-12-01

The objective of the present study is to compare and quantify the postural differences and joint pain distribution between subjects with benign joint hypermobility syndrome (BJHS) and the normal population. This observational, non-randomized, and controlled study was conducted at Rheumatology and Physical Medicine and Rehabilitation Medicine Departments of a tertiary care teaching hospital. Subjects comprise 35 persons with diagnosis of BJHS, and the control group was matched for age and sex. Reedco's Posture score (RPS) and visual analogue scale (VAS) were the outcome measures. The subjects were assessed for pain in ten major joints and rated on a VAS. A standard posture assessment was conducted using the Reedco's Posture score. The same procedure was executed for an age- and sex-matched control group. Mean RPS for the BJHS group was 55.29 ± 8.15 and for the normal group it was 67 ± 11.94. The most common postural deviances in subjects with BJHS were identified in the following areas of head, hip (Sagittal plane), upper back, trunk, and lower back (Coronal plane). Intensity of pain was found to be more in BJHS persons than that of the normal persons, and the knee joints were the most affected. The present study compared and quantified the postural abnormalities and the pain in BJHS persons. The need for postural re-education and specific assessment and training for the most affected joints are discussed. There is a significant difference in posture between subjects with BJHS and the normal population. BJHS persons need special attention to their posture re-education during physiotherapy sessions to reduce long-term detrimental effects on the musculoskeletal system.

Bartter syndrome and growth hormone deficiency: three cases.

PubMed

Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

2012-11-01

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

[Constitutional mismatch repair deficiency syndrome].

PubMed

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.

PubMed

Sekine, Shigeki; Mori, Taisuke; Ogawa, Reiko; Tanaka, Masahiro; Yoshida, Hiroshi; Taniguchi, Hirokazu; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Kato, Mamoru; Furukawa, Eisaku; Ochiai, Atsushi; Hiraoka, Nobuyoshi

2017-08-01

Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins. Sequencing analyses identified APC or CTNNB1 mutations in the majority of sporadic adenomas (58/84, 69%) and MMR-proficient Lynch syndrome-associated adenomas (13/18, 72%). However, MMR-deficient Lynch syndrome-associated adenomas had less APC or CTNNB1 mutations (25/68, 37%) and frequent frameshift RNF43 mutations involving mononucleotide repeats (45/68, 66%). Furthermore, frameshift mutations affecting repeat sequences constituted 14 of 26 APC mutations (54%) in MMR-deficient adenomas whereas these frameshift mutations were rare in MMR-proficient adenomas in patients with Lynch syndrome (1/12, 8%) and in sporadic adenomas (3/52, 6%). Lynch syndrome-associated adenocarcinomas exhibited mutation profiles similar to those of MMR-deficient adenomas. Considering that WNT pathway activation sufficiently drives colorectal adenoma formation, the distinct mutation profiles of WNT pathway genes in Lynch syndrome-associated adenomas suggest that MMR deficiency commonly precedes adenoma formation.

Creatine deficiency syndromes.

PubMed

Schulze, Andreas

2013-01-01

The lack of creatine in the central nervous system causes a severe but treatable neurological disease. Three inherited defects, AGAT, GAMT, and CrT deficiency, compromising synthesis and transport of creatine have been discovered recently. Together these so-called creatine deficiency syndromes (CDS) might represent the most frequent metabolic disorders with a primarily neurological phenotype. Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder. The two defects in the creatine synthesis, AGAT and GAMT, are autosomal recessive disorders. They can be diagnosed by analysis of the creatine, guanidinoacetate, and creatinine in body fluids. Treatment is available and, especially when introduced in infancy, has a good outcome. The defect of creatine transport, CrT, is an X-linked condition and perhaps the most frequent reasons for X-linked mental retardation. Diagnosis is made by an increased ratio of creatine to creatinine in urine, but successful treatment still needs to be explored. CDS are under-diagnosed because easy to miss in standard diagnostic workup. Because CDS represent a frequent cause of cognitive and neurological impairment that is treatable they warrant consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech. Copyright © 2013 Elsevier B.V. All rights reserved.

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.

PubMed

Pai, Rish K; Dudley, Beth; Karloski, Eve; Brand, Randall E; O'Callaghan, Neil; Rosty, Christophe; Buchanan, Daniel D; Jenkins, Mark A; Thibodeau, Stephen N; French, Amy J; Lindor, Noralane M; Pai, Reetesh K

2018-06-08

Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome is challenging, and ancillary studies that distinguish between sporadic DNA mismatch repair (MMR) protein deficiency and Lynch syndrome are needed, particularly when germline mutation studies are inconclusive. The aim of this study was to determine if MMR protein-deficient non-neoplastic intestinal crypts can help distinguish between patients with and without Lynch syndrome. We evaluated the expression of MMR proteins in non-neoplastic intestinal mucosa obtained from colorectal surgical resection specimens from patients with Lynch syndrome-associated colorectal carcinoma (n = 52) and patients with colorectal carcinoma without evidence of Lynch syndrome (n = 70), including sporadic MMR protein-deficient colorectal carcinoma (n = 30), MMR protein proficient colorectal carcinoma (n = 30), and "Lynch-like" syndrome (n = 10). MMR protein-deficient non-neoplastic colonic crypts were identified in 19 of 122 (16%) patients. MMR protein-deficient colonic crypts were identified in 18 of 52 (35%) patients with Lynch syndrome compared to only 1 of 70 (1%) patients without Lynch syndrome (p < 0.001). This one patient had "Lynch-like" syndrome and harbored two MSH2-deficient non-neoplastic colonic crypts. MMR protein-deficient non-neoplastic colonic crypts were not identified in patients with sporadic MMR protein-deficient or MMR protein proficient colorectal carcinoma. Our findings suggest that MMR protein-deficient colonic crypts are a novel indicator of Lynch syndrome, and evaluation for MMR protein-deficient crypts may be a helpful addition to Lynch syndrome diagnostics.

Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis.

PubMed

Maiorana, Arianna; Vergine, Gianluca; Coletti, Valentina; Luciani, Matteo; Rizzo, Cristiano; Emma, Francesco; Dionisi-Vici, Carlo

2014-01-01

Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started. The consequences are life threatening with multiorgan impairment, and severe electrolyte imbalances. During refeeding, glucose-involved insulin secretion causes abrupt reverse of lipolysis and a switch from catabolism to anabolism. This creates a sudden cellular demand for electrolytes (phosphate, potassium, and magnesium) necessary for synthesis of adenosine triphosphate, glucose transport, and other synthesis reactions, resulting in decreased serum levels. Laboratory findings and multiorgan impairment similar to refeeding syndrome also are observed in acute thiamine deficiency. The aim of this study was to determine whether thiamine deficiency was responsible for the electrolyte imbalance caused by tubular electrolyte losses. We describe two patients with leukemia who developed acute thiamine deficiency with an electrolyte pattern suggestive of refeeding syndrome, severe lactic acidosis, and evidence of proximal renal tubular dysfunction. A single thiamine administration led to rapid resolution of the tubular dysfunction and normalization of acidosis and electrolyte imbalance. This demonstrated that thiamine deficiency was responsible for the electrolyte imbalance, caused by tubular electrolyte losses. Our study indicates that, despite sharing many laboratory similarities, refeeding syndrome and acute thiamine deficiency should be viewed as separate entities in which the electrolyte abnormalities reported in cases of refeeding syndrome with thiamine deficiency and refractory lactic acidosis may be due to renal tubular losses instead of a shifting from extracellular to intracellular compartments. In oncologic and malnourished patients, individuals at particular risk for developing refeeding syndrome, in the presence of these biochemical abnormalities, acute thiamine deficiency should be suspected and treated because it promptly

Postural strategies in Prader-Willi and Down syndrome patients.

PubMed

Cimolin, Veronica; Galli, Manuela; Grugni, Graziano; Vismara, Luca; Precilios, Helmer; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

Patients affected by Down (DS) and Prader-Willi syndrome (PWS) are characterised by some common clinical and functional features including gait disorders and reduced postural control. The aim of our study was to quantitatively compare postural control in adult PWS and DS. We studied 12 PWS and 19 DS adult patients matched for age, height, weight and body mass index. They were instructed to maintain an upright standing position on a force platform for 30s with open eyes (OE) and we calculated the range of center of pressure (CoP) displacement in the A/P direction (RANGE(AP)) and in the M/L direction (RANGE(ML)) and the total CoP trajectory length during quiet stance (Sway Path, SP). The range of oscillations in PWS and DS in both AP and ML direction were higher than in controls. PWS and DS were statistically different for RANGE(AP), with PWS showing higher mean values. Our results confirm a reduced capacity of both PWS and DS in maintaining postural stability. This appears to be in some respect different in PWS and DS, with PWS showing poorer control in AP. DS and, particularly, PWS should be encouraged to undergo specific balance training and strengthening of the ankle muscles as part of a comprehensive rehabilitation program to enhance daily functioning and quality of life. Copyright © 2010 Elsevier Ltd. All rights reserved.

Baraitser and Winter syndrome with growth hormone deficiency.

PubMed

Chentli, Farida; Zellagui, Hadjer

2014-01-01

Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

[Impedance characteristics of ear acupoints in identifying excess or deficiency syndrome of stroke].

PubMed

Wang, Pin; Yang, Hua-Yuan; Wang, Yi-Qin

2010-06-01

To explore the impedance characteristics of ear acupoints in stroke patients with excess or deficiency syndrome, and to provide basis data for objective study of the syndromes of stroke. The data of electrical characteristics of ear acupoints in stroke patients and healthy people were collected, and excess syndrome and deficiency syndrome of stroke were identified by quantifying the syndromes of stroke using scales. The differences in impedance characteristics of ear acupoints between stroke patients and healthy people were analyzed, and the differences in impedance characteristics of ear acupoints between stroke patients with excess syndrome and stroke patients with deficiency syndrome were analyzed too. The correlation among impedance characteristics of ear acupoints, stroke and the syndromes was also analyzed. There were significant differences in impedance characteristics of ear acupoints between stroke patients and healthy people (P<0.05,P<0.01). The ear acupoints CO12 (Gan) and CO13 (Pi) had a significant role in diagnosing stroke as compared with CO18 (Neifenmi), AT3.4.AH12i (Naogan), CO10 (Shen), TG2p (Shenshangxian), AH6a (Jiaogan), AT4 (Pizhixia), and CO15 (Xin). There were significant differences in impedance characteristics of ear acupoints between stroke patients with excess syndrome and stroke patients with deficiency syndrome (P<0.05, P<0.01). The ear acupoints AH6a (Jiaogan) and CO10 (Shen) played an important role in differentiation diagnosis of excess syndrome and deficiency syndrome of stroke, followed by CO18 (Neifenmi), TF4 (Shenmen) and TG2p (Shenshangxian). Some ear acupoints with diagnostic value for stroke may provide basis of objective research for stroke diagnosis as well as identifying excess syndrome and deficiency syndrome of stroke.

Radiologic Assessment of Forward Head Posture and Its Relation to Myofascial Pain Syndrome

PubMed Central

Sun, An; Yeo, Han Gyeol; Kim, Tae Uk; Hyun, Jung Keun

2014-01-01

Objective To assess head posture using cervical spine X-rays to find out whether forward head posture is related to myofascial pain syndrome (MPS) in neck and shoulder. Methods Eighty-eight participants who were diagnosed with MPS in neck and shoulder were evaluated in this study. Four parameters (distance among head, cervical spines, and shoulder, and cervical angle) were measured from lateral view of cervical spine X-ray. The location and number of trigger points in the neck and shoulder and symptom duration were evaluated for each patient. Results Both horizontal distances between C1 vertebral body and C7 spinous process and between the earhole and C7 vertebral body were negatively correlated with cervical angle reflecting cervical lordosis (p<0.05). Younger patients had significantly (p<0.05) less cervical angle with more forward head posture. There was no relationship between MPS (presence, location, and number of trigger points) and radiologic assessments (distance parameters and the cervical angle). Conclusion Forward head posture and reduced cervical lordosis were seen more in younger patients with spontaneous neck pain. However, these abnormalities did not correlate with the location or the number of MPS. Further studies are needed to delineate the mechanism of neck pain in patients with forward head posture. PMID:25566482

[Study on qi deficiency syndrome distribution and quality of life in patients with advanced non-small cell lung cancer].

PubMed

Yuan, Lin; Zhang, Pei-tong; Yang, Zong-yan

2011-07-01

To study the qi deficiency syndrome distribution and quality of life (QOL) of patients with advanced non-small cell lung cancer (NSCLC). A questionnaire survey was conducted in 120 patients with advanced NSCLC using the QOL scale "Functional Assessment of Cancer Therapy" (FACT-L) (Version 4.0). Meanwhile, syndrome typing was performed. On the basis of results of syndrome typing, patients of different syndrome types were grouped and compared, thus studying the distribution of advanced NSCLC patients of qi deficiency syndrome and qi deficiency syndrome correlated QOL features. Qi deficiency, blood stasis, yin deficiency, phlegm and dampness dominated in syndrome types of the 120 patients with advanced NSCLC. Of syndrome types accounting for larger ratios in 112 patients, pure qi deficiency syndrome accounted for 30.36% (34 cases), qi deficiency and blood stasis syndrome for 18. 75% (21 cases), both qi and yin deficiency syndrome for 10. 71% (12 cases). There was no correlation between the appearance of qi deficiency syndrome and patients' age, sex, pathological typing (adenocarcinoma/squamous carcinoma), or the disease duration. NSCLC patients in phase IV were mostly complicated with qi deficiency syndrome (P<0.05). Scores of physical states, emotional states, functional states, and total scores in the FACT-L scale were lower in those complicated with qi deficiency syndrome (89 cases) than in those without complicated qi deficiency syndrome (31 cases), showing statistical difference (P<0.01, P<0.05). The scores of the lung cancer specific module (additional concerns) in the FACT-L scale showed statistical difference, sequenced as qi deficiency and blood stasis syndrome > pure qi deficiency syndrome > both qi and yin deficiency syndrome (P<0.05). Qi deficiency syndrome is the main syndrome of advanced NSCLC. The QOL of advanced NSCLC patients complicated with qi deficiency syndrome was poorer than those without complicated qi deficiency syndrome. Besides, along with

Syndromes associated with nutritional deficiency and excess.

PubMed

Jen, Melinda; Yan, Albert C

2010-01-01

Normal functioning of the human body requires a balance between nutritional intake and metabolism, and imbalances manifest as nutritional deficiencies or excess. Nutritional deficiency states are associated with social factors (war, poverty, famine, and food fads), medical illnesses with malabsorption (such as Crohn disease, cystic fibrosis, and after bariatric surgery), psychiatric illnesses (eating disorders, autism, alcoholism), and medications. Nutritional excess states result from inadvertent or intentional excessive intake. Cutaneous manifestations of nutritional imbalance can herald other systemic manifestations. This contribution discusses nutritional deficiency and excess syndromes with cutaneous manifestations of particular interest to clinical dermatologists. Copyright © 2010. Published by Elsevier Inc.

The Effect of Vibration on Postural Response of Down Syndrome Individuals on the Seesaw

ERIC Educational Resources Information Center

Carvalho, Regiane Luz; Almeida, Gil Lucio

2009-01-01

In order to better understand the role of proprioception in postural adjustments on unstable surfaces, we analyzed the effect of vibration on the pattern of muscle activity and joint displacements (ankle, knee and hip) of eight intellectually normal participants (control group-CG) and eight individuals with Down syndrome (DS) while balancing on…

Measuring Regularity of Human Postural Sway Using Approximate Entropy and Sample Entropy in Patients with Ehlers-Danlos Syndrome Hypermobility Type

ERIC Educational Resources Information Center

Rigoldi, Chiara; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Mainardi, Luca; Galli, Manuela

2013-01-01

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the…

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

PubMed Central

2013-01-01

Introduction Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome. PMID:24377430

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

PubMed

Adachi, Masanori; Tajima, Toshihiro; Muroya, Koji; Asakura, Yumi

2013-12-30

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

Normal sensorimotor plasticity in complex regional pain syndrome with fixed posture of the hand.

PubMed

Morgante, Francesca; Naro, Antonino; Terranova, Carmen; Russo, Margherita; Rizzo, Vincenzo; Risitano, Giovanni; Girlanda, Paolo; Quartarone, Angelo

2017-01-01

Movement disorders associated with complex regional pain syndrome type I have been a subject of controversy over the last 10 years regarding their nature and pathophysiology, with an intense debate about the functional (psychogenic) nature of this disorder. The aim of this study was to test sensorimotor plasticity and cortical excitability in patients with complex regional pain syndrome type I who developed a fixed posture of the hand. Ten patients with complex regional pain syndrome type I in the right upper limb and a fixed posture of the hand (disease duration less than 24 months) and 10 age-matched healthy subjects were enrolled. The following parameters of corticospinal excitability were recorded from the abductor pollicis brevis muscle of both hands by transcranial magnetic stimulation: resting and active motor thresholds, short-interval intracortical inhibition and facilitation, cortical silent period, and short- and long-latency afferent inhibition. Sensorimotor plasticity was tested using the paired associative stimulation protocol. Short-interval intracortical inhibition and long-latency afferent inhibition were reduced only in the affected right hand of patients compared with control subjects. Sensorimotor plasticity was comparable to normal subjects, with a preserved topographic specificity. Our data support the view that motor disorder in complex regional pain syndrome type I is not associated with abnormal sensorimotor plasticity, and it shares pathophysiological abnormalities with functional (psychogenic) dystonia rather than with idiopathic dystonia. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Lower regulatory frequency for postural control in patients with fibromyalgia and chronic fatigue syndrome.

PubMed

Rasouli, Omid; Vasseljen, Ottar; Fors, Egil A; Lorås, Håvard W; Stensdotter, Ann-Katrin

2018-01-01

As many similar symptoms are reported in fibromyalgia (FM) and chronic fatigue syndrome (CFS), underlying defcits may potentially also be similar. Postural disequilibrium reported in both conditions may thus be explained by similar deviations in postural control strategies. 75 females (25/group FM, CFS and control, age 19-49 years) performed 60 s of quiet standing on a force platform in each of three conditions: 1) firm surface with vision, 2) firm surface without vision and, 3) compliant surface with vision. Migration of center of pressure was decomposed into a slow and a fast component denoting postural sway and lateral forces controlling postural sway, analyzed in the time and frequency domains. Main effects of group for the antero-posterior (AP) and medio-lateral (ML) directions showed that patients displayed larger amplitudes (AP, p = 0.002; ML, p = 0.021) and lower frequencies (AP, p < 0.001; ML, p < 0.001) for the slow component, as well as for the fast component (amplitudes: AP, p = 0.010; ML, p = 0.001 and frequencies: AP, p = 0.001; ML, p = 0.029) compared to controls. Post hoc analyses showed no significant differences between patient groups. In conclusion, both the CFS- and the FM-group differed from the control group. Larger postural sway and insufficient control was found in patients compared to controls, with no significant differences between the two patient groups.

Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

PubMed

Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

2017-06-01

In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

Postural headache in a child with Marfan syndrome: case report and review of the literature.

PubMed

Rosser, Tena; Finkel, Julie; Vezina, Gilbert; Majd, Massoud

2005-02-01

The case of a 10-year-old female with Marfan syndrome and postural headache secondary to spontaneous intracranial hypotension is described. The patient was found to have multiple dural ectasias and a cerebrospinal fluid leak at the left cervicothoracic junction. Her presentation, diagnostic work-up, and management are reviewed, and the relevant literature is discussed. Spontaneous intracranial hypotension secondary to cerebrospinal fluid leaks from dural ectasia should be recognized as a potential complication in children with Marfan syndrome and other connective tissue diseases.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PubMed

Baas, Martijn; Burger, Elise B; Sneiders, Dimitri; Galjaard, Robert-Jan H; Hovius, Steven E R; van Nieuwenhoven, Christianne A

2018-02-01

Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies

Reduced bone density in androgen-deficient women with acquired immune deficiency syndrome wasting.

PubMed

Huang, J S; Wilkie, S J; Sullivan, M P; Grinspoon, S

2001-08-01

Women with acquired immune deficiency syndrome wasting are at an increased risk of osteopenia because of low weight, changes in body composition, and hormonal alterations. Although women comprise an increasing proportion of human immunodeficiency virus-infected patients, prior studies have not investigated bone loss in this expanding population of patients. In this study we investigated bone density, bone turnover, and hormonal parameters in 28 women with acquired immune deficiency syndrome wasting and relative androgen deficiency (defined as free testosterone < or =3.0 pg/ml, weight < or =90% ideal body weight, weight loss > or =10% from preillness maximum weight, or weight <100% ideal body weight with weight loss > or =5% from preillness maximum weight). Total body (1.04 +/- 0.08 vs. 1.10 +/- 0.07 g/cm2, human immunodeficiency virus-infected vs. control respectively; P < 0.01), anteroposterior lumbar spine (0.94 +/- 0.12 vs. 1.03 +/- 0.09 g/cm2; P = 0.005), lateral lumbar spine (0.71 +/- 0.14 vs. 0.79 +/- 0.09 g/cm2; P = 0.02), and hip (Ward's triangle; 0.68 +/- 0.14 vs. 0.76 +/- 0.12 g/cm2; P = 0.05) bone density were reduced in the human immunodeficiency virus-infected compared with control subjects. Serum N-telopeptide, a measure of bone resorption, was increased in human immunodeficiency virus-infected patients, compared with control subjects (14.6 +/- 5.8 vs. 11.3 +/- 3.8 nmol/liter bone collagen equivalents, human immunodeficiency virus-infected vs. control respectively; P = 0.03). Although body mass index was similar between the groups, muscle mass was significantly reduced in the human immunodeficiency virus-infected vs. control subjects (16 +/- 4 vs. 21 +/- 4 kg, human immunodeficiency virus-infected vs. control, respectively; P < 0.0001). In univariate regression analysis, muscle mass (r = 0.53; P = 0.004) and estrogen (r = 0.51; P = 0.008), but not free testosterone (r = -0.05, P = 0.81), were strongly associated with lumbar spine bone density in the

Lower regulatory frequency for postural control in patients with fibromyalgia and chronic fatigue syndrome

PubMed Central

Rasouli, Omid; Vasseljen, Ottar; Fors, Egil A.; Lorås, Håvard W.

2018-01-01

As many similar symptoms are reported in fibromyalgia (FM) and chronic fatigue syndrome (CFS), underlying defcits may potentially also be similar. Postural disequilibrium reported in both conditions may thus be explained by similar deviations in postural control strategies. 75 females (25/group FM, CFS and control, age 19–49 years) performed 60 s of quiet standing on a force platform in each of three conditions: 1) firm surface with vision, 2) firm surface without vision and, 3) compliant surface with vision. Migration of center of pressure was decomposed into a slow and a fast component denoting postural sway and lateral forces controlling postural sway, analyzed in the time and frequency domains. Main effects of group for the antero-posterior (AP) and medio-lateral (ML) directions showed that patients displayed larger amplitudes (AP, p = 0.002; ML, p = 0.021) and lower frequencies (AP, p < 0.001; ML, p < 0.001) for the slow component, as well as for the fast component (amplitudes: AP, p = 0.010; ML, p = 0.001 and frequencies: AP, p = 0.001; ML, p = 0.029) compared to controls. Post hoc analyses showed no significant differences between patient groups. In conclusion, both the CFS- and the FM-group differed from the control group. Larger postural sway and insufficient control was found in patients compared to controls, with no significant differences between the two patient groups. PMID:29617424

Fire-Heat and Qi Deficiency Syndromes as Predictors of Short-term Prognosis of Acute Ischemic Stroke

PubMed Central

Cheng, Shu-Chen; Lin, Chien-Hsiung; Chang, Yeu-Jhy; Lee, Tsong-Hai; Ryu, Shan-Jin; Chen, Chun-Hsien; Chang, Her-Kun; Chang, Chee-Jen

2013-01-01

Abstract Objectives To explore the relationships between traditional Chinese medicine (TCM) syndromes and disease severity and prognoses after ischemic stroke, such as neurologic deficits and decline in activities of daily living (ADLs). Methods The study included 211 patients who met the inclusion criteria of acute ischemic stroke based on clinical manifestations, computed tomography or magnetic resonance imaging findings, and onset of ischemic stroke within 72 hours with clear consciousness. To assess neurologic function and ADLs in patients with different TCM syndromes, the TCM Syndrome Differentiation Diagnostic Criteria for Apoplexy scale (containing assessments of wind, phlegm, blood stasis, fire-heat, qi deficiency, and yin deficiency with yang hyperactivity syndromes) was used within 72 hours of stroke onset, and Western medicine–based National Institutes of Health Stroke Scale (NIHSS) and Barthel Index (BI) assessments were performed at both admission and discharge. Results The most frequent TCM syndromes associated with acute ischemic stroke were wind syndrome, phlegm syndrome, and blood stasis syndrome. Improvement according to the BI at discharge and days of admission were significantly different between patients with and those without fire-heat syndrome. Patients with qi deficiency syndrome had longer hospital stays and worse NIHSS and BI assessments at discharge than patients without qi deficiency syndrome. All the reported differences reached statistical significance. Conclusions These results provide evidence that fire-heat syndrome and qi deficiency syndrome are essential elements that can predict short-term prognosis of acute ischemic stroke. PMID:23600945

Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

PubMed

Galli-Tsinopoulou, Assimina; Kyrgios, Ioannis; Emmanouilidou, Eleftheria; Maggana, Ioanna; Kotanidou, Eleni; Kokka, Paraskevi; Stylianou, Charilaos

2011-01-01

Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4/12 year-old girl with the typical features of FHS in whom growth hormone deficiency was diagnosed and two years later central precocious puberty was noted. The patient showed a good response to human recombinant growth hormone as well as gonadotropin releasing hormone analogue treatment.

Postural analysis in time and frequency domains in patients with Ehlers-Danlos syndrome.

PubMed

Galli, Manuela; Rigoldi, Chiara; Celletti, Claudia; Mainardi, Luca; Tenore, Nunzio; Albertini, Giorgio; Camerota, Filippo

2011-01-01

The goal of this work is to analyze postural control in Ehlers-Danlos syndrome (EDS) participants in time and frequency domain. This study considered a pathological group composed by 22 EDS participants performing a postural test consisting in maintaining standing position over a force platform for 30s in two conditions: open eyes (OE) and closed eyes (CE). In order to compare pathological group we acquired in the same conditions a control group composed by 20 healthy participants. The obtained center of pressure (COP) signal was analyzed in time and frequency domain using an AR model. Results revealed differences between pathological and control group: EDS participants pointed out difficulties in controlling COP displacements trying to keep it inside the BOS in AP direction and for this reason increased the use of ML mechanism in order to avoid the risk of fall. Also in CE conditions they demonstrated more difficulties in maintaining posture revealing the proprioceptive system is impaired, due to ligament laxity that characterized EDS participants. Frequency domain analysis showed no differences between the two groups, affirming that the changes in time domain reflected really the impairment to the postural control mechanism and not a different strategy assumed by EDS participants. These data could help in decision-making process to establish a correct rehabilitation approach, based on the reinforcing of muscle tone to supply the ligament laxity in order to prevent risks of falls and its consequences. Copyright © 2010 Elsevier Ltd. All rights reserved.

Description of the motor development of 3-12 month old infants with Down syndrome: the influence of the postural body position.

PubMed

Tudella, Eloisa; Pereira, Karina; Basso, Renata Pedrolongo; Savelsbergh, Geert J P

2011-01-01

The purpose of the present study was to describe the rate of motor development in infants with Down syndrome in the age range of 3-12 months and identify the difficulties both in performance and acquiring motor skills in prone, supine, sitting and standing positions. Nineteen infants with Down syndrome and 25 healthy full term typical infants were assessed using the Alberta Infant Motor Scale (AIMS) monthly from 3 to 12 months of age. The infants with Down syndrome achieved significant later the level of motor performance of the typical infants. In the supine posture, the performance was significantly lesser for the Down syndrome infants in comparison to the typical infants from the 3rd to 6th month and in the 8th month. In the prone, sitting and standing postures this difference is found for all the months. In conclusion, the sequence of motor development of the Down syndrome is the same as the typical infants. However infants with Down syndrome need more time to acquire skills, mainly antigravitational ones, among them the standing position. Copyright © 2011 Elsevier Ltd. All rights reserved.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

PubMed

Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

2015-10-01

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

PubMed

Monnot, S; Chabrol, B; Cano, A; Pellissier, J F; Collignon, P; Montfort, M F; Paquis-Flucklinger, V

2005-05-01

Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and prenatal diagnosis.

Postural hypocapnic hyperventilation is associated with enhanced peripheral vasoconstriction in postural tachycardia syndrome with normal supine blood flow

PubMed Central

Stewart, Julian M.; Medow, Marvin S.; Cherniack, Neil S.; Natelson, Benjamin H.

2015-01-01

Previous investigations have demonstrated a subset of postural tachycardia syndrome (POTS) patients characterized by normal peripheral resistance and blood volume while supine but thoracic hypovolemia and splanchnic blood pooling while upright secondary to splanchnic hyperemia. Such “normal-flow” POTS patients often demonstrate hypocapnia during orthostatic stress. We studied 20 POTS patients (14–23 yr of age) and compared them with 10 comparably aged healthy volunteers. We measured changes in heart rate, blood pressure, heart rate and blood pressure variability, arm and leg strain-gauge occlusion plethysmography, respiratory impedance plethysmography calibrated against pneumotachography, end-tidal partial pressure of carbon dioxide (PetCO2), and impedance plethysmographic indexes of blood volume and blood flow within the thoracic, splanchnic, pelvic (upper leg), and lower leg regional circulations while supine and during upright tilt to 70°. Ten POTS patients demonstrated significant hyperventilation and hypocapnia (POTSHC) while 10 were normocapnic with minimal increase in postural ventilation, comparable to control. While relative splanchnic hypervolemia and hyperemia occurred in both POTS groups compared with controls, marked enhancement in peripheral vasoconstriction occurred only in POTSHC and was related to thoracic blood flow. Variability indexes suggested enhanced sympathetic activation in POTSHC compared with other subjects. The data suggest enhanced cardiac and peripheral sympathetic excitation in POTSHC. PMID:16565300

A nationwide, cross-sectional survey on unusual sleep postures and sleep-disordered breathing-related symptoms in people with Down syndrome.

PubMed

Kuroda, H; Sawatari, H; Ando, S; Ohkusa, T; Rahmawati, A; Ono, J; Nishizaka, M; Hashiguchi, N; Matsuoka, F; Chishaki, A

2017-07-01

People with Down syndrome (DS) often have sleep-disordered breathing (SDB). Unusual sleep postures, such as leaning forward and sitting, are observed in people with DS. This study aimed to clarify the prevalence of unusual sleep postures and their relationships with SDB-related symptoms (SDB-RSs), such as snoring, witnessed apnoea, nocturnal awakening and excessive daytime sleepiness. A questionnaire, including demographic characteristics and the presence of unusual sleep postures, as well as SDB-RSs, was completed by 1149 parents of people with DS from Japan. Unusual sleep postures were recorded in 483 (42.0%) people with DS. These participants were significantly younger and had a history of low muscle tone more frequently than people without unusual sleep postures. In all ages, the leaning forward posture was more frequent than sitting. People with DS with unusual sleep postures suffered from SDB-RSs. Those who slept in the sitting posture had more frequent SDB-RSs than did those who slept with the leaning forward posture. Snoring, witnessed apnoea and nocturnal awakening were observed in 73.6, 27.2 and 58.2% of participants, respectively. Snoring increased with aging. Witnessed apnoea was more common in males and in those with hypothyroidism than in females and in those without hypothyroidism. Our study shows that there is a close relationship between unusual sleep postures and SDB-RSs. We recommend that all people with DS with unusual sleep postures should be checked for the presence of SDB. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

[Head posture in orthodontics: physiopathology and clinical aspects 2].

PubMed

Caltabiano, M; Verzi, P; Scire Scappuzzo, G

1989-01-01

The Authors review in orthodontic respects present knowledges about head posture involvement in craniofacial morphogenesis and pathology. Relationships between craniofacial morphology, craniocervical posture, craniomandibular posture, cervical spine curvature, hyoid bone position and posture of whole body in space are shown, in attempt to explain conditions such as "forward head posture", mouth breathing and some occlusal disorders. Main methods to evaluate craniocervical relations on lateral skull radiographs are analysed. Pathogenesis of pain syndromes associated with abnormal craniocervical and craniomandibular mechanics are also briefly treated.

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

PubMed

Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

2017-06-01

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

Effects of vision and cognitive load on static postural control in subjects with and without patellofemoral pain syndrome.

PubMed

Zeinalzadeh, Afsaneh; Talebian, Saeed; Naghdi, Soofia; Salavati, Mahyar; Nazary-Moghadam, Salman; Zeynalzadeh Ghoochani, Bahareh

2018-04-01

To compare the effects of vision and cognitive load on static postural control in subjects with and without patellofemoral pain syndrome (PFPS). Twenty-eight PFPS patients and 28 controls participated in the study. Postural control was assessed in isolation as well as with visual manipulation and cognitive loading on symptomatic limb. The outcome measures of postural control were quantified in terms of area, anterior-posterior (AP), medial-lateral (ML), and mean velocity (MV) of the displacements of center of pressure (COP). In addition, cognitive performance (auditory Stroop task) was measured in the forms of average reaction time and error ratio in baseline (sitting) and different postural conditions. PFPS subjects showed greater increases in area (p = 0.01), AP (p = 0.01), and ML (p = 0.05) displacements of COP in the blindfolded tasks as compared to control group. However, cognitive load did not differently affect postural control in the two groups. Although PFPS and control group had similar reaction times in the sitting position (p = 0.29), PFPS subjects had longer reaction times than healthy subjects in dual task conditions (p = 0.04). Visual inputs seem to be essential for discriminating postural control between PFPS and healthy individuals. PFPS patients biased toward decreasing cognitive performance more than healthy subjects when they perform the single leg stance and cognitive task concurrently.

Abnormal gastric myoelectrical activity in postural tachycardia syndrome.

PubMed

Seligman, William H; Low, David A; Asahina, Masato; Mathias, Christopher J

2013-04-01

Postural tachycardia syndrome (PoTS) is an important cause of orthostatic intolerance resulting from cardiovascular autonomic dysfunction. In addition to postural symptoms, PoTS patients may have allied features, including gastrointestinal (GI) symptoms, which have not yet been thoroughly investigated. We evaluated gastric myoelectrical activity in PoTS patients. Using cutaneous electrogastrography (EGG), we recorded gastric myoelectrical activity before and after standard liquid meal ingestion in 15 PoTS patients (age 27 ± 4 years); including 7 with and 8 without GI symptoms, and in 11 healthy individuals (age 23 ± 7 years). We performed spectral analysis of EGG recordings to obtain the dominant frequency of gastric pacemaker rhythm (DF), instability coefficient of DF (ICDF), and low (LFR%), normal (NFR%), and high (HFR%) range power percentages of the total power. Instability coefficient of DF, an index of variability of gastric pacemaker rhythm, was significantly elevated both pre- and post-prandially (30-45 min after the meal) in the PoTS group (8.8 ± 6, 10.0 ± 8 %) compared with controls (4.0 ± 3, 4.0 ± 3 %; both p < 0.05). Patients with GI symptoms had significantly higher post-prandial ICDF (15.0 ± 5 %) than those without GI symptoms (5.6 ± 4 %; p < 0.05). There were no significant differences in DF, LFR%, NFR% and HFR% before and after the meal between the PoTS and control groups, or between PoTS patients with and without GI symptoms. Our study revealed increased variability of gastric pacemaker rhythm in PoTS, and these findings might be related to pathophysiology of functional GI symptoms in PoTS.

EFL Teachers' Perceptions of Strategy Deficiency Syndrome: A Grounded Theory Study

ERIC Educational Resources Information Center

Ostovar-Namaghi, Seyyed Ali; Ahmadabadi-Tak, Bahareh

2017-01-01

Strategy-deficient language learners struggle to develop their language proficiency through limiting and inappropriate strategies. This study aims at exploring experienced teachers' perceptions of strategy deficiency syndrome among EFL learners. To this end, the perspectives of a purposive sample of experienced teachers teaching in private…

Fractal dimension approach in postural control of subjects with Prader-Willi Syndrome

PubMed Central

2011-01-01

Background Static posturography is user-friendly technique suitable for the study of the centre of pressure (CoP) trajectory. However, the utility of static posturography in clinical practice is somehow limited and there is a need for reliable approaches to extract physiologically meaningful information from stabilograms. The aim of this study was to quantify the postural strategy of Prader-Willi patients with the fractal dimension technique in addition to the CoP trajectory analysis in time and frequency domain. Methods 11 adult patients affected by Prader-Willi Syndrome (PWS) and 20 age-matched individuals (Control group: CG) were included in this study. Postural acquisitions were conducted by means of a force platform and the participants were required to stand barefoot on the platform with eyes open and heels at standardized distance and position for 30 seconds. Platform data were analysed in time and frequency domain. Fractal Dimension (FD) was also computed. Results The analysis of CoP vs. time showed that in PWS participants all the parameters were statistically different from CG, with greater displacements along both the antero-posterior and medio-lateral direction and longer CoP tracks. As for frequency analysis, our data showed no significant differences between PWS and CG. FD evidenced that PWS individuals were characterized by greater value in comparison with CG. Conclusions Our data showed that while the analysis in the frequency domain did not seem to explain the postural deficit in PWS, the FD method appears to provide a more informative description of it and to complement and integrate the time domain analysis. PMID:21854639

Evidence for Impaired Verbal Identification but Intact Nonverbal Recognition of Fearful Body Postures in Asperger's Syndrome

ERIC Educational Resources Information Center

Doody, John P.; Bull, Peter

2013-01-01

While most studies of emotion recognition in Asperger's Syndrome (AS) have focused solely on the verbal decoding of affective states, the current research employed the novel technique of using both nonverbal matching and verbal labeling tasks to examine the decoding of emotional body postures and facial expressions. AS participants performed…

Postural hypotension and the anti-gravity suit.

PubMed

Brook, W H

1994-10-01

An air force anti-gravity suit, as used by fighter pilots to prevent loss of consciousness, has been successfully employed to treat severe postural hypotension in a patient with Shy-Drager syndrome. The definition of postural hypotension is reviewed, and reference is made to the previous use of the anti-gravity suit in the treatment of this condition.

Surgeon General's Report on Acquired Immune Deficiency Syndrome.

ERIC Educational Resources Information Center

Office of the Surgeon General (DHHS/PHS), Washington, DC.

This report on Acquired Immune Deficiency Syndrome (AIDS) offers information on: (1) the medical definition of AIDS; (2) signs and symptoms; (3) the present situtation regarding the number of cases of AIDS and how the disease is transmitted; (4) how to protect oneself from AIDS; (5) what behavior is safe; and (6) what is currently understood about…

[Strategies to promote testosterone deficiency syndrome: a paradigm of disease mongering].

PubMed

Gavilán, Enrique; Jiménez de Gracia, Laura; Gérvas, Juan

2014-01-01

The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

NAD(P)H: Quinone Oxidoreductase 1 Deficiency Conjoint with Marginal Vitamin C Deficiency Causes Cigarette Smoke Induced Myelodysplastic Syndromes

PubMed Central

Das, Archita; Dey, Neekkan; Ghosh, Arunava; Das, Tanusree; Chatterjee, Indu B.

2011-01-01

Background The etiology of myelodysplastic syndromes (MDS) is largely unknown. Exposure to cigarette smoke (CS) is reported to be associated with MDS risk. There is inconsistent evidence that deficiency of NAD(P)H-quinone: oxidoreductase 1 (NQO1) increases the risk of MDS. Earlier we had shown that CS induces toxicity only in marginal vitamin C-deficient guinea pigs but not in vitamin C-sufficient ones. We therefore considered that NQO1 deficiency along with marginal vitamin C deficiency might produce MDS in CS-exposed guinea pigs. Methodology and Principal Findings Here we show that CS exposure for 21 days produces MDS in guinea pigs having deficiency of NQO1 (fed 3 mg dicoumarol/day) conjoint with marginal vitamin C deficiency (fed 0.5 mg vitamin C/day). As evidenced by morphology, histology and cytogenetics, MDS produced in the guinea pigs falls in the category of refractory cytopenia with unilineage dysplasia (RCUD): refractory anemia; refractory thrombocytopenia that is associated with ring sideroblasts, micromegakaryocytes, myeloid hyperplasia and aneuploidy. MDS is accompanied by increased CD34(+) cells and oxidative stress as shown by the formation of protein carbonyls and 8-oxodeoxyguanosine. Apoptosis precedes MDS but disappears later with marked decrease in the p53 protein. MDS produced in the guinea pigs are irreversible. MDS and all the aforesaid pathophysiological events do not occur in vitamin C-sufficient guinea pigs. However, after the onset of MDS vitamin C becomes ineffective. Conclusions and Significance CS exposure causes MDS in guinea pigs having deficiency of NQO1 conjoint with marginal vitamin C deficiency. The syndromes are not produced in singular deficiency of NQO1 or marginal vitamin C deficiency. Our results suggest that human smokers having NQO1 deficiency combined with marginal vitamin C deficiency are likely to be at high risk for developing MDS and that intake of a moderately large dose of vitamin C would prevent MDS. PMID:21655231

Severe chronic iron deficiency anaemia secondary to Trichuris dysentery syndrome - a case report.

PubMed

Azira N, M S; Zeehaida, M

2012-12-01

Trichuris dysentery syndrome is caused by Trichuris trichiura which contributes to one of the most common helminthic infections in the world. It is associated with heavy colonic infection that manifests as mucoid diarrhoea, rectal bleeding, rectal prolapse, iron deficiency anaemia, and finger clubbing. Here, we report a case of trichuris dysentery syndrome complicated with severe chronic iron deficiency anaemia in a 4-year-old girl who required blood transfusion. The nematode was visualized on stool microscopic and colonoscopic examination. A longer duration of anti-helminthic treatment is required to achieve effective and better outcome.

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

PubMed

Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

2013-10-15

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

Constitutional mismatch repair deficiency syndrome: Do we know it?

PubMed

Ramachandra, C; Challa, Vasu Reddy; Shetty, Rachan

2014-04-01

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.

Cerebrovascular regulation in the postural orthostatic tachycardia syndrome (POTS)

NASA Technical Reports Server (NTRS)

Low, P. A.; Novak, V.; Spies, J. M.; Novak, P.; Petty, G. W.

1999-01-01

Patients with the postural orthostatic tachycardia syndrome (POTS) have symptoms of orthostatic intolerance despite having a normal orthostatic blood pressure (BP), which suggests some impairment of cerebrovascular regulation. Cerebrovascular autoregulation refers to the maintenance of normal cerebral blood flow in spite of changing BP. Mechanisms of autoregulation include myogenic, metabolic and neurogenic vasoregulation. Beat-to-beat recording of blood-flow velocity (BFV) is possible using transcranial Doppler imaging. It is possible to evaluate autoregulation by regressing deltaBFV to deltaBP during head-up tilt. A number of dynamic methods, relating deltaBFV to deltaBP during sudden induced changes in BP by occluding then releasing peripheral arterial flow or by the Valsalva maneuver. The deltaBFV to deltaBP provides an index of autoregulation. In orthostatic hypotension, the autoregulated range is typically expanded. In contrast, paradoxical vasoconstriction occurs in POTS because of an increased depth of respiration, resulting in hypocapnic cerebrovascular constriction, and impaired autoregulation.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

PubMed

Stockler, Sylvia; Schutz, Peter W; Salomons, Gajja S

2007-01-01

Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that affects the creatine transporter, SLC6A8 deficiency (SLC6A8; MIM 300036). The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain, and specific disturbances in metabolites of creatine metabolism in body fluids. In urine and plasma, abnormal guanidinoacetic acid (GAA) levels are found in AGAT deficiency (reduced GAA) and in GAMT deficiency (increased GAA). In urine of males with SLC6A8 deficiency, an increased creatine/creatinine ratio is detected. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy. Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be discovered. CCDSs may be responsible for a considerable fraction of children and adults affected with mental retardation of unknown etiology. Thus, screening for this group of disorders should be included in the differential diagnosis of this population. In this review, also the importance of CCDSs for the unravelling of the (patho)physiology of cerebral creatine metabolism is discussed.

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.

PubMed

Levy, Y; Gupta, N; Le Deist, F; Garcia, C; Fischer, A; Weill, J C; Reynaud, C A

1998-10-27

Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

PubMed Central

Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

1994-01-01

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

Efficacy of Therapies for Postural Tachycardia Syndrome: A Systematic Review and Meta-analysis.

PubMed

Wells, Rachel; Elliott, Adrian D; Mahajan, Rajiv; Page, Amanda; Iodice, Valeria; Sanders, Prashanthan; Lau, Dennis H

2018-06-21

To identify the evidence base and evaluate the efficacy of each treatment for postural tachycardia syndrome (POTS) in light of a recent consensus statement highlighting the lack of treatment options with clear benefit to risk ratios for this debilitating condition. The CENTRAL (Cochrane Central Register of Controlled Trials), PubMed, and Embase databases from inception to May 2017 were searched using the terms postural AND tachycardia AND syndrome. A total of 135 full-text publications were screened after excluding duplicates (n=681), conference abstracts (n=467), and records that did not relate to POTS therapy (n=876). We included 28 studies with at least 4 patients with POTS in which symptomatic response was reported after more than 4 weeks of therapy. This review was performed according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement. Two investigators independently performed the data extraction and evaluated the quality of evidence. This study comprised 25 case series and 3 small randomized controlled trials that evaluated 755 and 103 patients with POTS, respectively. Interventions directed at increasing intravascular volume, increasing peripheral or splanchnic vascular tone, controlling heart rate, and increasing exercise tolerance demonstrate moderate efficacy (range, 51%-72%). Few data exist on their comparative effectiveness. Significant heterogeneities were seen in terms of patient age, symptom severity, and the measures used to evaluate treatment efficacy. The current evidence base to guide optimal management of patients with POTS is extremely limited. More high-quality collaborative research with standardized reporting of symptom response and treatment tolerability is urgently needed. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

PubMed

Paucar, Martin; Beniaminov, Stanislav; Paslawski, Wojciech; Svenningsson, Per

2016-10-01

Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI). Female FMR1 premutation carriers rarely develop motor features. Dual pathology is an emerging phenomenon among FMR1 premutation carriers. Here, we describe a family affected by FMR1-related disorders in which the female index case has developed a rapidly progressive and disabling syndrome of atypical parkinsonism. This syndrome consists of early onset postural instability, echolalia, dystonia, and varying types of apraxia like early onset orobuccal apraxia and oculomotor apraxia. She has also developed supranuclear gaze palsy, increased latency of saccade initiation, and slow saccades. These features are compatible with progressive supranuclear palsy (PSP) of a corticobasal syndrome (CBS) variant. Imaging displays a marked reduction of presynaptic dopaminergic uptake and cerebrospinal fluid analysis showed reduced dopamine metabolism; however, the patient is unresponsive to levodopa. Midbrain atrophy ("hummingbird sign") and mild cerebellar atrophy were found on brain MRI. Her father was affected by a typical FXTAS presentation but also displayed dopamine deficiency along with the hummingbird sign. The mechanisms by which FMR1 premutations predispose to atypical parkinsonism and dopamine deficiency await further elucidation.

Relationship Between Kyphotic Posture and Falls in Community-Dwelling Men and Women: The Locomotive Syndrome and Health Outcome in Aizu Cohort Study.

PubMed

Tominaga, Ryoji; Fukuma, Shingo; Yamazaki, Shin; Sekiguchi, Miho; Otani, Koji; Kikuchi, Shin-Ichi; Sasaki, Sho; Kobayashi, Susumu; Fukuhara, Shunichi; Konno, Shin-Ichi

2016-08-01

A cohort study using data from the Locomotive Syndrome and Health Outcome in Aizu Cohort Study, a population-based prospective cohort study of residents of the towns of Tadami and Minamiaizu in Fukushima Prefecture, Japan. The aim of this study was to clarify the association between kyphotic posture and falls, and to investigate the presence or absence of sex differences. In our literature review, we found no studies focusing on sex differences in the association between kyphotic posture and falls. We included subjects aged more than 40 years who participated in annual health check-ups from 2009 to 2010. We analyzed the effects of kyphotic posture, measured using the wall-occiput test (WOT), on falls, adjusting for potential confounders, such as age, body mass index, symptoms of depression, sedative medication, and other comorbidities. We enrolled a total of 1418 subjects into primary analyses (593 men, 825 women; mean [standard deviation] age, 68.1 [7.7] yrs). We then stratified subjects into the following groups according to the degree of kyphotic posture: nonkyphotic posture (n = 1138, 80.3%), mild kyphotic posture (n = 172, 12.1%), and severe kyphotic posture (n = 108, 7.6%). We observed no significant difference in the severity of kyphotic posture between men and women (P = 0.18). Overall, 284 subjects (20.0%) experienced at least one fall during the one-year period. After adjustment for potential confounders using a logistic regression model, we observed a significant association between severe kyphotic posture and falls for men [odds ratio (OR) 2.14 (1.01-4.57); P = 0.048]. In contrast, we observed no significant association for women [OR for severe kyphotic posture 0.80 (0.43-1.50), OR for mild kyphotic posture 0.91 (0.53-1.57)]. We identified a sex difference in the association between kyphotic posture and falls in community-dwelling adults. In particular, severe kyphotic posture might only increase the incidence of falls in men. 3.

[Posture and aging. Current fundamental studies and management concepts].

PubMed

Mourey, F; Camus, A; Pfitzenmeyer, P

2000-02-19

FUNDAMENTAL IMPORTANCE OF POSTURE: In the elderly subject, preservation of posture is fundamental to maintaining functional independence. In recent years, there has been much progress in our understanding of the mechanisms underlying strategies used to control equilibrium in the upright position. Physiological aging, associated with diverse disease states, dangerously alters the postural function, particularly anticipated adjustments which allow an adaptation of posture to movement. CLINICAL ASSESSMENT OF POSTURE: Several tests have been developed to assess posture in the elderly subject, particularly the time it takes to start walking. We selected certain tests which can be used in everyday practice to predict falls: the stance test, the improved Romberg test, the "timed get up and go test", measurement of walking cadence, assessment of balance reactions, sitting-standing and standing-sitting movements and capacity to get up off the floor. PATIENT CARE: Elderly patients with equilibrium disorders can benefit from specific personalized rehabilitation protocols. Different techniques have been developed for multiple afferential stimulation, reprogramming postural strategies, and correcting for deficient motor automatisms.

Growth hormone deficiency in treated acromegaly and active Cushing's syndrome.

PubMed

Formenti, Anna Maria; Maffezzoni, Filippo; Doga, Mauro; Mazziotti, Gherardo; Giustina, Andrea

2017-02-01

Growth hormone deficiency (GHD) in adults is characterized by reduced quality of life and physical fitness, skeletal fragility, increased weight and cardiovascular risk. It may be found in (over-) treated acromegaly as well as in active Cushing's syndrome. Hypopituitarism may develop in patients after definitive treatment of acromegaly, although the exact prevalence of GHD in this population is still uncertain because of limited awareness, and scarce and conflicting data so far available. Because GHD associated with acromegaly and Cushing's syndrome may yield adverse consequences on similar target systems, the final outcomes of some complications of both acromegaly and Cushing's syndrome may be further affected by the occurrence of GHD. It is still largely unknown, however, whether GHD in patients with post-acromegaly or active Cushing's syndrome (e.g. pharmacologic glucocorticoid treatment) may benefit from GH replacement. We review the diagnostic, clinical and therapeutic aspects of GHD in adults treated for acromegaly and in those with active Cushing's syndrome. Copyright © 2017 Elsevier Ltd. All rights reserved.

[metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

PubMed

Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

2015-02-01

To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (P<0.05). The differences in the metabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

PubMed

Celletti, Claudia; Camerota, Filippo; Castori, Marco; Censi, Federica; Gioffrè, Laura; Calcagnini, Giovanni; Strano, Stefano

2017-01-01

Background . Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods . The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group. Results . Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls. Conclusions. This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.

Serum metabolomics strategy for understanding pharmacological effects of ShenQi pill acting on kidney yang deficiency syndrome.

PubMed

Nan, Yang; Zhou, Xiaohang; Liu, Qi; Zhang, Aihua; Guan, Yu; Lin, Shanhua; Kong, Ling; Han, Ying; Wang, Xijun

2016-07-15

Kidney yang deficiency syndrome, a diagnostic pattern in Chinese medicine, is similar with clinical features of the glucocorticoid withdrawal syndrome. The aim of this present study was to explore low molecular mass differentiating metabolites between control group and model group of kidney yang deficiency rats induced with corticosterone as well as the therapeutic effect of Shen Qi Pill, a classic traditional Chinese medicine formula for treating Kidney yang deficiency syndrome in China. This study utilized ultra-performance liquid chromatography coupled with electrospray ionization synapt quadrupole time-of-flight high definition mass spectrometry (UPLC/ESI-SYNAPT-QTOF-HDMS) to identify the underlying biomarkers for clarifying mechanism of Shen Qi Pill in treating Kidney yang deficiency syndrome based on metabolite profiling of the serum samples and in conjunction with multivariate and pathway analysis. Meanwhile, blood biochemistry assay and histopathology were examined to identify specific changes in the model group rats. Distinct changes in the pattern of metabolites were observed by UPLC-HDMS. The changes in metabolic profiling were restored to their baseline values after treatment with Shen Qi Pill according to the combined with a principal component analysis (PCA) score plots. Altogether, the current metabolomics approach based on UPLC-HDMS and orthogonal projection to latent structures discriminate analysis (OPLS-DA) demonstrated 27 ions (18 in the negative mode, 9 in the positive mode, 17 ions restored by Shen Qi Pill). These results indicated that effectiveness of Shen Qi Pill in Kidney yang deficiency syndrome rats induced a substantial change in the metabolic profiles by regulating the biomarkers and adjusting the metabolic disorder. It suggested that the metabolomics approach was a powerful approach for elucidation of pathologic changes of Chinese medicine syndrome and action mechanisms of traditional Chinese medicine. Copyright © 2015 Elsevier B

Balance ability and postural stability among patients with painful shoulder disorders and healthy controls

PubMed Central

2013-01-01

Background In therapeutic settings, patients with shoulder pain often exhibit deficient coordinative abilities in their trunk and lower extremities. The aim of the study was to investigate 1) if there is a connection between shoulder pain and deficits in balance ability and postural stability, 2) if pain intensity is related to balance ability and postural stability, and 3) if there is a connection between body mass index (BMI) and balance ability and postural stability. Methods In this case–control study, patients (n = 40) with pathological shoulder pain (> 4 months) were matched with a healthy controls (n = 40) and were compared with regard to their balance ability and postural stability. Outcome parameters were postural stability, balance ability and symmetry index which were measured using the S3-Check system. In addition, the influence of shoulder pain intensity and BMI on the outcome parameters was analysed. Results Patients with shoulder pain showed significantly worse results in measurements of postural stability right/left (p < 0.01) and front/back (p < 0.01) as well as balance ability right/left (p = 0.01) and front/back (p < 0.01) compared to healthy controls. There were no significant group differences with regard to symmetry index. However, there was a significant (p < 0.01) symmetry shift towards the affected side within the shoulder pain group. There was no correlation between pain intensity and measurements of balance ability or postural stability. Likewise, no correlation between BMI and deficiencies in balance ability and postural stability was established. Conclusions Patients with pathological shoulder pain (> 4 months) have deficiencies in balance ability and postural stability; however the underlying mechanisms for this remain unclear. Neither pain intensity nor BMI influenced the outcome parameters. Patients with shoulder pain shift their weight to the affected side. Further research is needed to determine if

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

PubMed

Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

2014-01-01

Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

Otolith and Vertical Canal Contributions to Dynamic Postural Control

NASA Technical Reports Server (NTRS)

Black, F. Owen

1999-01-01

The objective of this project is to determine: 1) how do normal subjects adjust postural movements in response to changing or altered otolith input, for example, due to aging? and 2) how do patients adapt postural control after altered unilateral or bilateral vestibular sensory inputs such as ablative inner ear surgery or ototoxicity, respectively? The following hypotheses are under investigation: 1) selective alteration of otolith input or abnormalities of otolith receptor function will result in distinctive spatial, frequency, and temporal patterns of head movements and body postural sway dynamics. 2) subjects with reduced, altered, or absent vertical semicircular canal receptor sensitivity but normal otolith receptor function or vice versa, should show predictable alterations of body and head movement strategies essential for the control of postural sway and movement. The effect of altered postural movement control upon compensation and/or adaptation will be determined. These experiments provide data for the development of computational models of postural control in normals, vestibular deficient subjects and normal humans exposed to unusual force environments, including orbital space flight.

Deficiency neuropathy in wartime: the "paraesthetic-causalgic syndrome" described by Manuel Peraita during the Spanish Civil War.

PubMed

Huertas, Rafael; Del Cura, Maria Isabel

2010-04-08

This paper discusses the contribution of Spanish neurologist Manuel Peraita (1908-1950) to the study of deficiency neuropathy in the setting of the Spanish Civil War (1936-1939). The clinical characteristics of "paraesthetic-causalgic syndrome" or "Madrid syndrome" as described by Peraita are discussed, and the syndrome is presented in relation to other similar conditions, including Strachan's syndrome and burning feet syndrome.

Magnesium deficiency and metabolic syndrome: stress and inflammation may reflect calcium activation.

PubMed

Rayssiguier, Yves; Libako, Patrycja; Nowacki, Wojciech; Rock, Edmond

2010-06-01

Magnesium (Mg) intake is inadequate in the western diet and metabolic syndrome is highly prevalent in populations around the world. Epidemiological studies suggest that high Mg intake may reduce the risk but the possibility of confounding factors exists, given the strong association between Mg and other beneficial nutriments (vegetables, fibers, cereals). The concept that metabolic syndrome is an inflammatory condition may explain the role of Mg.Mg deficiency results in a stress effect and increased susceptibility to physiological damage produced by stress. Stress activates the hypothalamic-pituitary-adrenal axis (HPA) axis and the sympathetic nervous system. The activation of the renin-angiotensin-aldosterone system is a factor in the development of insulin resistance by increasing oxidative stress. In both humans and rats, aldosteronism results in an immunostimulatory state and leads to an inflammatory phenotype. Stress response induces the release of large quantities of excitatory amino acids and activates the nuclear factor NFkappaB, promoting translation of molecules involved in cell regulation, metabolism and apoptosis. The rise in neuropeptides is also well documented. Stress-induced HPA activation has been identified to play an important role in the preferential body fat accumulation but evidence that Mg is involved in body weight regulation is lacking. One of the earliest events in the acute response to stress is endothelial dysfunction. Endothelial cells actively contribute to inflammation by elaborating cytokines, synthesizing chemical mediators and expressing adhesion molecules. Experimental Mg deficiency in rats induces a clinical inflammatory syndrome characterized by leukocyte and macrophage activation, synthesis of inflammatory cytokines and acute phase proteins, extensive production of free radicals. An increase in extracellular Mg concentration decreases inflammatory effects, while reduction in extracellular Mg results in cell activation. The

Office ergonomics: deficiencies in computer workstation design.

PubMed

Shikdar, Ashraf A; Al-Kindi, Mahmoud A

2007-01-01

The objective of this research was to study and identify ergonomic deficiencies in computer workstation design in typical offices. Physical measurements and a questionnaire were used to study 40 workstations. Major ergonomic deficiencies were found in physical design and layout of the workstations, employee postures, work practices, and training. The consequences in terms of user health and other problems were significant. Forty-five percent of the employees used nonadjustable chairs, 48% of computers faced windows, 90% of the employees used computers more than 4 hrs/day, 45% of the employees adopted bent and unsupported back postures, and 20% used office tables for computers. Major problems reported were eyestrain (58%), shoulder pain (45%), back pain (43%), arm pain (35%), wrist pain (30%), and neck pain (30%). These results indicated serious ergonomic deficiencies in office computer workstation design, layout, and usage. Strategies to reduce or eliminate ergonomic deficiencies in computer workstation design were suggested.

Postural Orthostatic Tachycardia Syndrome and Its Unusual Presenting Complaints in Women: A Literature Minireview

PubMed Central

Sohail, Wafa; Hatipoglu, Betul; Wilson, Robert

2018-01-01

Postural orthostatic tachycardia syndrome (POTS) is a heterogeneous disorder of the autonomic nervous system that is defined by symptoms of orthostatic intolerance. According to the current criteria for adults, currently, POTS is defined as a heart rate increment of 30 beats/minute or more after 10 minutes of standing in the absence of orthostatic hypotension. There is a vast majority that remains misdiagnosed due to the heterogeneity of the disorder. Due to a lack of Food and Drug Administration (FDA) approved therapy, alternative therapies and over the counter medications are used to alleviate the symptoms. This is an uncommon presentation observed primarily in women, as it is more prevalent in females. PMID:29876157

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

PubMed

Naito, E; Ito, M; Yokota, I; Saijo, T; Matsuda, J; Osaka, H; Kimura, S; Kuroda, Y

1997-08-01

We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentration (0.4 mmol/L). However, in the presence of a low concentration (1 x 10(-4) mmol/L) of TPP, the activity was significantly decreased, indicating that PDHC deficiency in this patient was due to decreased affinity of PDHC for TPP. The patient's older brother also was diagnosed as PDHC deficiency with Leigh syndrome, suggesting that PDHC deficiency in these two brothers was not a de novo mutation. Sequencing of the X-linked PDHC E1 alpha subunit revealed a C-->G point mutation at nucleotide 787, resulting in a substitution of glycine for arginine 263. Restriction enzyme analysis of the E1 alpha gene revealed that the mother was a heterozygote, indicating that thiamin-responsive PDHC deficiency associated with Leigh syndrome due to this mutation is transmitted by X-linked inheritance.

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

PubMed

Cantú, J M; Sánchez-Corona, J; García-Cruz, D; Fragoso, R

1980-01-01

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

PubMed

Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

2013-08-01

Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

Dental Space Deficiency Syndrome: An Anthropological Perspective.

PubMed

Richman, Colin S

2017-03-01

A new syndrome in dentistry, the dental space deficiency syndrome is proposed in this article. Signs and symptoms of this entity may include one or more of the following clinical dental features: tooth crowding, gingival recession, tooth impactions, rapid resorption of facial alveolar bony plates following premature tooth loss, dentally oriented sleep disorders, extended orthodontic treatment time, and malocclusion relapse following orthodontic therapy. These oral conditions, individually or collectively, seem to be associated with both genetic and functional factors. From an anthropological-functional perspective, the human jaws (basal bone and/or alveolar bone) have been shrinking. This results in a three-dimensional discrepancy between jawbone and tooth volumes, which are genetically determined. Consequently, the reduced volume of alveolar bone is not adequately able to accommodate the associated genetically determined dentition in functional and esthetic harmony. This paper describes the common etiology for the conditions listed above, namely the discrepancy between alveolar bone volume (essentially determined by functionality), and associated tooth volume (essentially determined by genetics), when considered in a three-dimensional perspective.

Postural tachycardia syndrome: time frequency mapping

NASA Technical Reports Server (NTRS)

Novak, V.; Novak, P.; Opfer-Gehrking, T. L.; Low, P. A.

1996-01-01

Orthostatic tachycardia is common but its specificity remains uncertain. Our preliminary work suggested that using autonomic function testing in conjunction with time-frequency mapping (TFM), it might be possible to characterize a subset of the postural tachycardia syndrome (POTS), that is due to a restricted autonomic neuropathy. We describe 20 patients (17 women and 3 men, aged 14-43 years) with florid POTS and 20 controls (14 women and 6 men, aged 20-41 years). Autonomic failure was quantified by its distribution (cardiovagal, adrenergic and sudomotor) and severity, a symptom profile was generated, and spectral indices, based on modified Wigner distribution during rest and head-up tilt (80 degrees) were evaluated. During tilt-up POTS patients differed from controls by an excessive heart rate (> 130 bpm) (P < 0.001), and higher diastolic pressure (P < 0.01). During rest, cardiovagal oscillations (at respiratory frequencies [RF]) and slow rhythms at nonrespiratory frequencies (NONRF) (from 0.01 to 0.07 Hz) in R-R intervals (RRI) (P < 0.01) were reduced. Both RF and NONRF rhythms in RRI were further blunted with tilt-up (P < 0.001). Slow adrenergic vasomotor rhythms in blood pressure (BP) (approximately 0.07 Hz) surged with tilt-up and returned to normal levels afterwards. The index of sympatho-vagal balance (NONRF-Systolic BP (SBP)/RF-RRI) was dramatically increased in POTS (P < 0.001). Distal postganglionic sudomotor failure was observed, and impairment of the BP responses to the Valsalva maneuver (phase II) suggested peripheral adrenergic dysfunction. Persistent orthostatic dizziness, tiredness, gastrointestinal symptoms and palpitations were common in POTS patients. It is possible to identify a subset of POTS patients who have a length-dependent autonomic neuropathy, affecting the peripheral adrenergic and cardiovagal fibers, with relative preservation of cardiac adrenergic fibers.

Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?

PubMed

Miglis, Mitchell G; Schultz, Brittany; Muppidi, Srikanth

2017-12-01

It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year. Patients with hEDS had twice as many outpatient visits (21 v. 10, p=0.012), were taking more prescription medications (8 vs. 5.5, p=0.030), and were more likely to see a pain physician (70% vs 25%, p=0.005). Autonomic testing demonstrated a slight reduction in heart rate variability and slightly lower blood pressures on tilt table testing in hEDS patients, however for most patients these variables remained within the range of normal. Orthostatic tachycardia on tilt table testing was greater in POTS controls (46bpm vs 39bpm, p=0.018). Abnormal QSweat responses were common in both groups (38% of POTS+hEDS and 36% of POTS controls). While autonomic testing results were not significantly different between groups, patients with POTS+hEDS took more medications and had greater markers of healthcare utilization, with chronic pain likely playing a prominent role. Copyright © 2017 Elsevier B.V. All rights reserved.

Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

PubMed

Pacheva, Iliyana; Ivanov, Ivan; Penkov, Marin; Kancheva, Daliya; Jordanova, Albena; Ivanova, Mariya

2016-09-01

A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed. © 2016 by the Association of Clinical Scientists, Inc.

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

PubMed

Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

2009-06-01

Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

[The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

PubMed

Jakimiuk, Artur J; Szamatowicz, Jacek

2014-01-01

Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

GLUT1 deficiency syndrome in clinical practice.

PubMed

Klepper, Joerg

2012-07-01

GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. Copyright © 2011. Published by Elsevier B.V.

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PubMed

Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

2016-03-05

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

Diagnosing Postural Tachycardia Syndrome: Comparison of Tilt Test versus Standing Hemodynamics

PubMed Central

Plash, Walker B; Diedrich, André; Biaggioni, Italo; Garland, Emily M; Paranjape, Sachin Y; Black, Bonnie K; Dupont, William D; Raj, Satish R

2012-01-01

Postural tachycardia syndrome (POTS) is characterized by increased heart rate (ΔHR) of ≥30 bpm with symptoms related to upright posture. Active stand (STAND) and passive head-up tilt (TILT) produce different physiological responses. We hypothesized these different responses would affect the ability of individuals to achieve the POTS HR increase criterion. Patients with POTS (n=15) and healthy controls (n=15) underwent 30 min of TILT and STAND testing. ΔHR values were analyzed at 5 min intervals. Receiver Operating Characteristics analysis was performed to determine optimal cut point values of ΔHR for both TILT and STAND. TILT produced larger ΔHR than STAND for all 5 min intervals from 5 min (38±3 bpm vs. 33±3 bpm; P=0.03) to 30 min (51±3 bpm vs. 38±3 bpm; P<0.001). Sensitivity (Sn) of the 30 bpm criterion was similar for all tests (TILT-10=93%, STAND-10=87%, TILT30=100%, and STAND30=93%). Specificity (Sp) of the 30 bpm criterion was less at both 10 and 30 min for TILT (TILT10=40%, TILT30=20%) than STAND (STAND10=67%, STAND30=53%). The optimal ΔHR to discriminate POTS at 10 min were 38 bpm (TILT) and 29 bpm (STAND), and at 30 min were 47 bpm (TILT) and 34 bpm (STAND). Orthostatic tachycardia was greater for TILT (with lower specificity for POTS diagnosis) than STAND at 10 and 30 min. The 30 bpm ΔHR criterion is not suitable for 30 min TILT. Diagnosis of POTS should consider orthostatic intolerance criteria and not be based solely on orthostatic tachycardia regardless of test used. PMID:22931296

Vitamin D deficiency is prevalent in girls and women with rett syndrome

USDA-ARS?s Scientific Manuscript database

The aim of the study was to determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D (25-(OH)D) levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girls and women with Rett syndrome (RTT). Retrospective review of...

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].

PubMed

Pinard, J M; Marsac, C; Barkaoui, E; Desguerre, I; Birch-Machin, M; Reinert, P; Ponsot, G

1999-04-01

Succinate dehydrogenase (SDH) deficiency is rare. Clinical manifestations can appear in infancy with a marked impairment of psychomotor development with pyramidal signs and extrapyramidal rigidity. A 10-month-old boy developed severe neurological features, evoking a Leigh syndrome; magnetic resonance imaging showed features of leukodystrophy. A deficiency in the complex II respiratory chain (succinate dehydrogenase [SDH]) was shown. The course was remarkable by the regression of neurological impairment under treatment by riboflavin. The delay of psychomotor development, mainly involving language, was moderate at the age of 5 years. The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.

Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?

PubMed

Ramos-Molina, Bruno; Molina-Vega, María; Fernández-García, José C; Creemers, John W

2018-06-07

Prader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 ( PCSK1 ) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.

Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

PubMed Central

Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

2015-01-01

Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.

PubMed

Stuy, M; Chen, G-F; Masonek, J M; Scharschmidt, B F

2015-09-01

A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.

Teaching AIDS. A Resource Guide on Acquired Immune Deficiency Syndrome. Third Edition.

ERIC Educational Resources Information Center

Quackenbush, Marcia; Sargent, Pamela

The first edition of this resource guide for educators on how to teach students about Acquired Immune Deficiency Syndrome (AIDS) was published in 1986. Since then, basic facts about the transmission and prevention of the AIDS virus have not changed substantially. The terminologies about the disease, however, have changed and the changing…

[Relationship between vitamin D deficiency and metabolic syndrome in adult population of the Community of Madrid].

PubMed

Gradillas-García, Antonio; Álvarez, Julia; Rubio, José Antonio; de Abajo, Francisco J

2015-04-01

Previous studies have suggested an association between MS and vitamin D deficiency, but data are not conclusive. This study was intended to find out if metabolic syndrome, according to the 2009 IDF/AHA/NHLBI, is associated to the presence of vitamin D deficiency. A cross-sectional study was conducted on a sample of 326 subjects aged 18 years or older, recruited from a health center in Alcalá de Henares. Participants underwent an interview and a standardized clinical examination. In a second visit, blood tests were performed in 255 subjects to quantify serum levels of 25-hydroxyvitamin D (25 OH-VitD) and different laboratory parameters associated to MS. The association between vitamin D deficiency and metabolic syndrome (and each of its components) was examined. In the study population, MS prevalence was 36.1% and prevalence of vitamin D deficiency (25 OH-Vit D<20 ng/mL) was 56.3%. MS was more common in the group of patients with vitamin D deficiency (43.4%) than in the group with no deficiency (26.8%, P=.006), with an estimated prevalence ratio of 1.62 (95% CI: 1.13-2.31). Adjustment for age, sex, and body mass index did not change such association. There is a significant association between vitamin D deficiency and MS. Both conditions are highly prevalent in our population. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B Patients

PubMed Central

O'brien, John S.

1972-01-01

Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in α-acetylglucosaminidase activity (α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). A similar deficiency was found in frozen organs from two other patients. A partial deficiency of α-acetylglucosaminidase was found in cultured skin fibroblasts from both parents of one patient. Soluble endogenous inhibitors did not account for the enzyme deficiency. Other lysosomal hydrolases were normal or increased in cultured fibroblasts from patients with this disease. No deficiency of α-acetylglucosaminidase is present in other genetic mucopolysaccharidoses, including Sanfilippo Type A. PMID:4261742

Regional Blood Volume and Peripheral Blood Flow in the Postural Tachycardia Syndrome

PubMed Central

Stewart, Julian M.; Montgomery, Leslie D.

2015-01-01

Variants of postural tachycardia syndrome (POTS) are associated with increased (“high flow” POTS, HFP), decreased (“low flow POTS”, LFP) and normal (“normal flow POTS”, NFP) blood flow measured in the lower extremities while supine. We propose that postural tachycardia is related to thoracic hypovolemia during orthostasis but that the patterns of peripheral blood flow relate to different mechanisms for thoracic hypovolemia. We studied 37 POTS patients aged 14-21 years: 14 LFP, 15 NFP and 8 HFP patients and 12 healthy control subjects. Peripheral blood flow was measured supine by venous occlusion strain gauge plethysmography of the forearm and calf in order to subgroup patients. Using indocyanine green techniques we showed decreased cardiac index (CI) and increased total peripheral resistance (TPR) in LFP, increased CI and decreased TPR in HFP, and unchanged CI and TPR in NFP while supine compared to control subjects. Blood volume tended to be decreased in LFP compared to control subjects. We used impedance plethysmography to assess regional blood volume redistribution during upright tilt. Thoracic blood volume decreased while splanchnic, pelvic and leg blood volumes increased for all subjects during orthostasis, but were markedly lower than control for all POTS groups. Splanchnic volume was increased in NFP and LFP. Pelvic blood volume was increased in HFP only. Calf volume was increased above control in HFP and LFP. The results support the hypothesis of [at least] three pathophysiologic variants of POTS distinguished by peripheral blood flow related to characteristic changes in regional circulations. The data demonstrate enhanced thoracic hypovolemia during upright tilt and confirm that POTS is related to inadequate cardiac venous return during orthostasis. PMID:15117717

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

PubMed

Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A

2011-03-01

The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (p<0.005) were hyperglycaemia, hepatic cytolysis, and altered consciousness at admission. Compared to a group of SURF1-deficient Leigh syndrome patients assembled from the literature, SLSJ-COX is distinct by the occurrence of metabolic crises, leading to earlier and higher mortality (p=0.001). SLSJ-COX is clinically distinct, with acute fatal acidotic crises on a backdrop of chronic moderate developmental delay and hyperlactataemia. Leigh syndrome is common. Stroke-like episodes can occur. The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. Even among A354V homozygotes, pronounced differences in survival and severity occur, showing that other genetic and/or environmental factors can influence outcome.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PubMed

Comeaux, Matthew S; Wang, Jing; Wang, Guoli; Kleppe, Soledad; Zhang, Victor Wei; Schmitt, Eric S; Craigen, William J; Renaud, Deborah; Sun, Qin; Wong, Lee-Jun

2013-07-01

Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes can be distinguished by intermediate metabolite levels, and a definitive diagnosis relies on the presence of deleterious mutations in the causative genes. Mutations and unclassified variants were identified in 41 unrelated patients, and 22 of these mutations were novel. Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay. Furthermore, the urine creatine:creatinine ratio is an effective screening test with 100% specificity in males suspected of having creatine transporter deficiency. This test has a high false-positive rate due to dietary factors or dilute urine samples and lacks sensitivity in females. We conclude that biochemical screening for plasma GAA and measuring of the urine creatine:creatinine ratio should be performed for suspected CCDS patients prior to sequencing. Also, based on the results of this study, we feel that sequencing should only be considered if a patient has abnormal biochemical results on repeat testing. Copyright © 2013 Elsevier Inc. All rights reserved.

Effect of Wrist Posture on Carpal Tunnel Pressure while Typing

PubMed Central

Rempel, David M.; Keir, Peter J.; Bach, Joel M.

2009-01-01

Long weekly hours of keyboard use may lead to or aggravate carpal tunnel syndrome. The effects of typing on fluid pressure in the carpal tunnel, a possible mediator of carpal tunnel syndrome, are unknown. Twenty healthy subjects participated in a laboratory study to investigate the effects of typing at different wrist postures on carpal tunnel pressure of the right hand. Changes in wrist flexion/extension angle (p = 0.01) and radial/ulnar deviation angle (p = 0.03) independently altered carpal tunnel pressure; wrist deviations in extension or radial deviation were associated with an increase in pressure. The activity of typing independently elevated carpal tunnel pressure (p= 0.001) relative to the static hand held in the same posture. This information can guide the design and use of keyboards and workstations in order to minimize carpal tunnel pressure while typing. The findings may also be useful to clinicians and ergonomists in the management of patients with carpal tunnel syndrome who use a keyboard. PMID:18383144

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

PubMed

Yüksel, Adnan; Seven, Mehmet; Cetincelik, Umran; Yeşil, Gözde; Köksal, Vedat

2006-06-01

Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients.

A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis.

PubMed

Akil, Ipek; Ozen, Serkan; Kandiloglu, Ali Riza; Ersoy, Betul

2010-06-01

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4-5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PubMed

Balasubramaniam, S; Riley, L G; Bratkovic, D; Ketteridge, D; Manton, N; Cowley, M J; Gayevskiy, V; Roscioli, T; Mohamed, M; Gardeitchik, T; Morava, E; Christodoulou, J

2017-09-01

Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

PubMed

Quintana, E; Mayr, J A; García Silva, M T; Font, A; Tortoledo, M A; Moliner, S; Ozaez, L; Lluch, M; Cabello, A; Ricoy, J R; Koch, J; Ribes, A; Sperl, W; Briones, P

2009-12-01

Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E(3), E3BP (E(3) binding protein), E(2) and E(1)-phosphatase being reported. Only seven patients with deficiency of the E(1)β subunit have been described, with mutations in the PDHB gene in six of them. Clinically they presented with a non-specific encephalomyopathy. We report two patients with new mutations in PDHB and Leigh syndrome. Patient 1 was a boy with neonatal onset of hyperlactataemia, corpus callosum hypoplasia and a convulsive encephalopathy. After neurological deterioration, he died at age 5 months. Autopsy revealed the characteristic features of Leigh syndrome. Patient 2, also a boy, presented a milder clinical course. First symptoms were noticed at age 16 months with muscular hypotonia, lactic acidosis and recurrent episodes of somnolence and transient tetraparesis. MRI revealed bilateral signal hyperintensities in the globus pallidus, midbrain and crura cerebri. PDHc and E(1) activities were deficient in fibroblasts in patient 1; in patient 2 PDHc deficiency was found in skeletal muscle. Mutations in PDHA1 were excluded. Sequencing of PDHB revealed a homozygous point mutation (c.302T>C), causing a predicted amino acid change (p.M101T) in patient 1. Patient 2 is compound heterozygote for mutations c.301A>G (p.M101V) and c.313G>A (p.R105Q). All three mutations appear to destabilize the E(1) enzyme with a decrease of both E(1)α and E(1)β subunits in immunoblot analysis. To our knowledge, these patients with novel PDHB mutations are the first reported with Leigh syndrome.

Vitamin D deficiency contributes directly to the acute respiratory distress syndrome (ARDS).

PubMed

Dancer, Rachel C A; Parekh, Dhruv; Lax, Sian; D'Souza, Vijay; Zheng, Shengxing; Bassford, Chris R; Park, Daniel; Bartis, D G; Mahida, Rahul; Turner, Alice M; Sapey, Elizabeth; Wei, Wenbin; Naidu, Babu; Stewart, Paul M; Fraser, William D; Christopher, Kenneth B; Cooper, Mark S; Gao, Fang; Sansom, David M; Martineau, Adrian R; Perkins, Gavin D; Thickett, David R

2015-07-01

Vitamin D deficiency has been implicated as a pathogenic factor in sepsis and intensive therapy unit mortality but has not been assessed as a risk factor for acute respiratory distress syndrome (ARDS). Causality of these associations has never been demonstrated. To determine if ARDS is associated with vitamin D deficiency in a clinical setting and to determine if vitamin D deficiency in experimental models of ARDS influences its severity. Human, murine and in vitro primary alveolar epithelial cell work were included in this study. Vitamin D deficiency (plasma 25(OH)D levels <50 nmol/L) was ubiquitous in patients with ARDS and present in the vast majority of patients at risk of developing ARDS following oesophagectomy. In a murine model of intratracheal lipopolysaccharide challenge, dietary-induced vitamin D deficiency resulted in exaggerated alveolar inflammation, epithelial damage and hypoxia. In vitro, vitamin D has trophic effects on primary human alveolar epithelial cells affecting >600 genes. In a clinical setting, pharmacological repletion of vitamin D prior to oesophagectomy reduced the observed changes of in vivo measurements of alveolar capillary damage seen in deficient patients. Vitamin D deficiency is common in people who develop ARDS. This deficiency of vitamin D appears to contribute to the development of the condition, and approaches to correct vitamin D deficiency in patients at risk of ARDS should be developed. UKCRN ID 11994. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Recent trends in the treatment of testosterone deficiency syndrome.

PubMed

Hong, Bum Sik; Ahn, Tai Young

2007-11-01

Testosterone deficiency syndrome (TDS) is defined as a clinical and biochemical syndrome associated with advancing age and is characterized by typical symptoms and deficiency in serum testosterone levels. TDS is a result of the interaction of hypothalamo-pituitary and testicular factors. Now, treatment of TDS with testosterone is still controversial due to a lack of large, controlled clinical trials on efficacy. The risks of treatment with testosterone appear to be minimal, although long-term studies on the safety of testosterone therapy are lacking. The aim of the therapy is to establish a physiological concentration of serum testosterone in order to correct the androgen deficiency, relieve its symptoms and prevent long-term sequelae. All of the available products, despite their varying pharmacodynamic and pharmacokinetic profiles, are able to reach this goal. Newer testosterone patches seem not to cause severe skin irritation. Testosterone gels minimize the skin irritation while providing flexibility in dosing and a low discontinuation rate. Oral testosterone undecanoate (TU) is free of liver toxicity. Recent formulation of oral TU markedly increased shelf-live, a major drawback in the older preparation. Producing swings in testosterone levels rising rapidly to the supraphysiological range is not the case with the new injectable long-acting preparation of TU. To be able to rapidly react and stop treatment in cases where side-effects and contraindications are detected, the short-acting transdermal and oral delivery modes have certain advantages. However, there is no evidence that the use of an injectable long-acting TU in men with TDS has limitations in clinical application for this reason. The use of dehydroepiandrosterone is still controversial because of a lack of well designed long-term trials, although some recent studies suggest positive effects on various body systems. Only a few studies have been carried out to investigate the effect of hCG (human

Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease.

PubMed

Begum, Rukshana; Mahtab, Mamun Al; Mamun, Ayub Al; Moben, Ahmed Lutful; Hossain, Sharker Mohammad Shahadat; Das, Dulal Chandra; Malakar, Debraj; Or Rashid, Harun; Roy, Partho Protim; Rahman, Salimur

2016-01-01

The Budd-Chiari syndrome (BCS) is a rare disorder due to chronic liver disease (CLD), which is caused by the obstruction of hepatic venous outflow that can be located at any place from the small hepatic venules up to the entrance of the inferior vena cava (IVC) into the right atrium. Among the causes of BCS, the rarer one is coagulation factor deficiencies. Here, we report a case of BCS associated with deficiency of protein C resulting in thrombus in IVC. The patient was a 50-year-old male, who had been suffering from recurrent abdominal and leg swelling for a long period of 7 years. He was evaluated thoroughly, and other causes of liver cirrhosis were excluded. Begum R, Al Mahtab M, Al Mamun A, Moben AL, Hossain SMS, Das DC, Malakar D, Rashid HO, Roy PP, Rahman S. Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease. Euroasian J Hepato-Gastroenterol 2016;6(2):194-197.

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

PubMed Central

López, Luis Carlos ; Schuelke, Markus ; Quinzii, Catarina M. ; Kanki, Tomotake ; Rodenburg, Richard J. T. ; Naini, Ali ; DiMauro, Salvatore ; Hirano, Michio 

2006-01-01

Coenzyme Q10 (CoQ10) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ10 has been associated with diverse clinical phenotypes, but, in most patients, the molecular cause is unknown. The first defect in a CoQ10 biosynthetic gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younger sibling with only nephropathy. Here, we describe an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts and compound heterozygous mutations in the PDSS2 gene, which encodes a subunit of decaprenyl diphosphate synthase, the first enzyme of the CoQ10 biosynthetic pathway. Biochemical assays with radiolabeled substrates indicated a severe defect in decaprenyl diphosphate synthase in the patient’s fibroblasts. This is the first description of pathogenic mutations in PDSS2 and confirms the molecular and clinical heterogeneity of primary CoQ10 deficiency. PMID:17186472

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.

PubMed

Sereni, Lucia; Castiello, Maria Carmina; Marangoni, Francesco; Anselmo, Achille; di Silvestre, Dario; Motta, Sara; Draghici, Elena; Mantero, Stefano; Thrasher, Adrian J; Giliani, Silvia; Aiuti, Alessandro; Mauri, Pierluigi; Notarangelo, Luigi D; Bosticardo, Marita; Villa, Anna

2018-02-06

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, infections, and susceptibility to autoimmunity and malignancies. Thrombocytopenia is a constant finding, but its pathogenesis remains elusive. To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS. Phenotypic and functional characterization of megakaryocytes and platelets in mutant CoWas mice and patients with WAS with and without autoantibodies was performed. Platelet antigen expression was examined through a protein expression profile and cluster proteomic interaction network. Platelet immunogenicity was tested by using ELISAs and B-cell and platelet cocultures. CoWas mice showed increased megakaryocyte numbers and normal thrombopoiesis in vitro, but WASp-deficient platelets had short lifespan and high expression of activation markers. Proteomic analysis identified signatures compatible with defects in cytoskeletal reorganization and metabolism yet surprisingly increased antigen-processing capabilities. In addition, WASp-deficient platelets expressed high levels of surface and soluble CD40 ligand and were capable of inducing B-cell activation in vitro. WASp-deficient platelets were highly immunostimulatory in mice and triggered the generation of antibodies specific for WASp-deficient platelets, even in the context of a normal immune system. Patients with WAS also showed platelet hyperactivation and increased plasma soluble CD40 ligand levels correlating with the presence of autoantibodies. Overall, these findings suggest that intrinsic defects in WASp-deficient platelets decrease their lifespan and dysregulate immune responses, corroborating the role of platelets as modulators of inflammation and immunity. Copyright © 2018 American

Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.

PubMed

Dubot, A; Hervouet, E; Mandon, G; Zabot, M T; Godinot, C

2004-06-01

Leigh syndrome with cytochrome oxidase (COX) deficiency has been associated with SURF1 mutations. For patient diagnosis, distinction between neutral polymorphisms and pathogenic missense SURF1 mutations in Leigh syndrome is essential. We show that several missense SURF1 mutations did not allow a stable protein to be expressed. Absence of immunologically reactive SURF1 is, therefore, helpful to demonstrate their pathogenicity. In addition, we show that out of two previously described missense mutations housed by the same allele, only one, the T737 C was pathogenic. Indeed, transfection of T737 C mutated SURF1 in SURF1-deficient cells did not restore normal SURF1 stability and COX activity. On the contrary, the G604 C-mutated SURF1 did it and, hence, is a neutral variant.

Characterization of postural control impairment in women with fibromyalgia

PubMed Central

Sempere-Rubio, Núria; López-Pascual, Juan; Aguilar-Rodríguez, Marta; Cortés-Amador, Sara; Espí-López, Gemma; Villarrasa-Sapiña, Israel

2018-01-01

The main goal of this cross-sectional study was to detect whether women with fibromyalgia syndrome (FMS) have altered postural control and to study the sensory contribution to postural control. We also explored the possibility that self-induced anxiety and lower limb strength may be related to postural control. For this purpose, 129 women within an age range of 40 to 70 years were enrolled. Eighty of the enrolled women had FMS. Postural control variables, such as Ellipse, Root mean square (RMS) and Sample entropy (SampEn), in both directions (i.e. mediolateral and anteroposterior), were calculated under five different conditions. A force plate was used to register the center of pressure shifts. Furthermore, isometric lower limb strength was recorded with a portable dynamometer and normalized by lean body mass. The results showed that women with FMS have impaired postural control compared with healthy people, as they presented a significant increase in Ellipse and RMS values (p<0.05) and a significant decrease in SampEn in both directions (p<0.05). Postural control also worsens with the gradual alteration of sensory inputs in this population (p<0.05). Performing a stressor dual task only impacts Ellipse in women with FMS (p>0.05). There were no significant correlations between postural control and lower limb strength (p>0.05). Therefore, women with FMS have impaired postural control that is worse when sensory inputs are altered but is not correlated with their lower limb strength. PMID:29723223

Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics.

PubMed

Plash, Walker B; Diedrich, André; Biaggioni, Italo; Garland, Emily M; Paranjape, Sachin Y; Black, Bonnie K; Dupont, William D; Raj, Satish R

2013-01-01

POTS (postural tachycardia syndrome) is characterized by an increased heart rate (ΔHR) of ≥30 bpm (beats/min) with symptoms related to upright posture. Active stand (STAND) and passive head-up tilt (TILT) produce different physiological responses. We hypothesized these different responses would affect the ability of individuals to achieve the POTS HR increase criterion. Patients with POTS (n=15) and healthy controls (n=15) underwent 30 min of tilt and stand testing. ΔHR values were analysed at 5 min intervals. ROC (receiver operating characteristic) analysis was performed to determine optimal cut point values of ΔHR for both tilt and stand. Tilt produced larger ΔHR than stand for all 5 min intervals from 5 min (38±3 bpm compared with 33±3 bpm; P=0.03) to 30 min (51±3 bpm compared with 38±3 bpm; P<0.001). Sn (sensitivity) of the 30 bpm criterion was similar for all tests (TILT10=93%, STAND10=87%, TILT30=100%, and STAND30=93%). Sp (specificity) of the 30 bpm criterion was less at both 10 and 30 min for tilt (TILT10=40%, TILT30=20%) than stand (STAND10=67%, STAND30=53%). The optimal ΔHR to discriminate POTS at 10 min were 38 bpm (TILT) and 29 bpm (STAND), and at 30 min were 47 bpm (TILT) and 34 bpm (STAND). Orthostatic tachycardia was greater for tilt (with lower Sp for POTS diagnosis) than stand at 10 and 30 min. The 30 bpm ΔHR criterion is not suitable for 30 min tilt. Diagnosis of POTS should consider orthostatic intolerance criteria and not be based solely on orthostatic tachycardia regardless of test used.

Patellar taping, patellofemoral pain syndrome, lower extremity kinematics, and dynamic postural control.

PubMed

Aminaka, Naoko; Gribble, Phillip A

2008-01-01

Patellar taping has been a part of intervention for treatment of patellofemoral pain syndrome (PFPS). However, research on the efficacy of patellar taping on lower extremity kinematics and dynamic postural control is limited. To evaluate the effects of patellar taping on sagittal-plane hip and knee kinematics, reach distance, and perceived pain level during the Star Excursion Balance Test (SEBT) in individuals with and without PFPS. Repeated-measures design with 2 within-subjects factors and 1 between-subjects factor. The University of Toledo Athletic Training Research Laboratory. Twenty participants with PFPS and 20 healthy participants between the ages of 18 and 29 years. The participants performed 3 reaches of the SEBT in the anterior direction under tape and no-tape conditions on both legs. The participants' hip and knee sagittal-plane kinematics were measured using the electromagnetic tracking system. Reach distance was recorded by hand and was normalized by dividing the distance by the participants' leg length (%MAXD). After each taping condition on each leg, the participants rated the perceived pain level using the 10-cm visual analog scale. The participants with PFPS had a reduction in pain level with patellar tape application compared with the no-tape condition (P = .005). Additionally, participants with PFPS demonstrated increased %MAXD under the tape condition compared with the no-tape condition, whereas the healthy participants demonstrated decreased %MAXD with tape versus no tape (P = .028). No statistically significant differences were noted in hip flexion and knee flexion angles. Although patellar taping seemed to reduce pain and improve SEBT performance of participants with PFPS, the exact mechanisms of these phenomena cannot be explained in this study. Further research is warranted to investigate the effect of patellar taping on neuromuscular control during dynamic postural control.

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

PubMed

Jasperson, K W; Samowitz, W S; Burt, R W

2011-10-01

Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP. © 2010 John Wiley & Sons A/S.

Role of sensory information in the control of postural orientation in Parkinson's disease.

PubMed

Vaugoyeau, Marianne; Azulay, Jean-Philippe

2010-02-15

Clinical findings and experimental studies both in parkinsonian patients and on animal provide evidence that the control of the axial orientation is markedly impaired in Parkinson's disease (stooped posture, Camptocormia, Pisa syndrome). Nevertheless the postural orientation component in Parkinson's disease has been poorly investigated. One study reports that Parkinsonian patients present a major impairment of the postural orientation component in relation with a proprioceptive impairment. On the basis of these results, the visual dependence observed in Parkinsonian patients is re-defined as an adaptive strategy partly compensating for the impaired proprioception.

A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome

ERIC Educational Resources Information Center

Ramaekers, Vincent T.; Sequeira, Jeffrey M.; Blau, Nenad; Quadros, Edward V.

2008-01-01

In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a…

[Therapeutic efficacy of modified zigui decoction in treatment of polycystic ovary syndrome of gan-shen yin deficiency syndrome].

PubMed

Li, Xiao-ping; Lin, Shu; Ye, Shuang

2011-08-01

To study the therapeutic efficacy of Modified Zigui Decoction (MZD) in treatment of polycystic ovary syndrome of Gan-Shen yin deficiency syndrome. 66 polycystic ovary syndrome patients of Gan-Shen yin deficiency syndrome were randomly assigned to the MZD group (Group A) and the Westem medicine group (Group B), 33 patients in each. Patients in Group A orally took MZD, while those in Group B orally took Diane-35. Their menstrual cycle rate, basal body temperature (BBT), the ovarian size, the number of follicles, and changes of endocrine hormones were observed before treatment, the first menstrual cycle, and the sixth menstrual cycle after treatment. (1) The normal rate of one menstrual cycle after stopping taking medicine was 57.58% in Group A and 63.64% in Group B. There was no statistical difference between the two groups (P>0.05). The normal rate of six menstrual cycles after stopping taking medicine was 45. 45% in Group A and 21.21% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (2) The biphasic BBT rates of one menstrual cycle after stopping taking medicine were somewhat elevated in the two groups, better than before treatment respectively (P<0.01). But there was no statistical difference between the two groups (P>0.05). The biphasic BBT rate of six menstrual cycles after stopping taking medicine was 45.45% in Group A and 18.18% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (3) The bilateral ovarian volume of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The bilateral ovarian volume of six menstrual cycles after stopping taking medicine was still more reduced than before treatment in Group A (P<0.01), while it returned to the size of before treatment in Group B (P>0.05). (4) The number of follicles of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The number of follicles

The Syndrome of 17,20 Lyase Deficiency

PubMed Central

2012-01-01

Context: Disorders of steroidogenesis have been instrumental in delineating human steroidogenic pathways. Each genetic disorder seemed to correspond to a different steroidogenic activity, helping to identify several enzymes. Beginning in 1972, several patients have been reported as having “17,20 lyase deficiency,” but there have been inconsistent genetic findings. Objective: This manuscript reviews the biochemistry, genetics, and clinical disorders of 17,20 lyase activity, which converts 21-carbon precursors of glucocorticoids to 19-carbon precursors of sex steroids. Findings: A single enzyme, cytochrome P450c17, catalyzes both 17α-hydroxylase activity and 17,20 lyase activity. The 17,20 lyase activity is especially sensitive to the activities of the accessory proteins P450 oxidoreductase and cytochrome b5. The first cases of genetically and biochemically proven 17,20 lyase deficiency were reported in 1997, in which specific P450c17 mutations were identified that lost 17,20 lyase activity but not 17α-hydroxylase activity when assayed in vitro. Subsequent work identified other P450c17 mutations and mutations in the genes encoding P450 oxidoreductase and cytochrome b5. Recently, the initially reported cases from 1972 were found to carry mutations in two aldo-keto reductases, AKR1C2 and AKR1C4. These AKR1C isozymes catalyze 3α-hydroxysteroid dehydrogenase activity in the so-called “backdoor pathway” by which the fetal testis produces dihydrotestosterone without the intermediacy of testosterone. Conclusions: 17,20 Lyase deficiency should be considered a syndrome with multiple causes, and not a single disease. Study of this very rare disorder has substantially advanced our understanding of the pathways, mechanisms, and control of androgen synthesis. Mutations in other, as-yet unidentified genes may also cause this phenotype. PMID:22072737

Hyperthyroidism caused by acquired immune deficiency syndrome.

PubMed

Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

2014-01-01

Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

ClinicalTrials.gov

2018-06-20

GLUT1DS1; Epilepsy; Glut1 Deficiency Syndrome 1, Autosomal Recessive; Glucose Metabolism Disorders; Glucose Transport Defect; Glucose Transporter Type 1 Deficiency Syndrome; Glucose Transporter Protein Type 1 Deficiency Syndrome

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.

PubMed

Leshinsky-Silver, E; Levine, A; Nissenkorn, A; Barash, V; Perach, M; Buzhaker, E; Shahmurov, M; Polak-Charcon, S; Lev, D; Lerman-Sagie, T

2003-08-01

CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay. We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed sensorineural hearing loss and Leigh syndrome. Liver biopsy revealed markedly reduced complex I+III and II+III. Addition of CoQ to the liver homogenate restored the activities, suggesting CoQ depletion. Histological staining showed prominent bridging; septal fibrosis and widening of portal spaces with prominent mixed inflammatory infiltrate, associated with interface hepatitis, bile duct proliferation with numerous bile plugs. Electron microscopy revealed a large number of mitochondria, which were altered in shape and size, widened and disordered intercristal spaces. This may be the first case of Leigh syndrome with liver and pancreas insufficiency, possibly caused by CoQ responsive oxphos deficiency.

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

PubMed

Nesbitt, Victoria; Morrison, Patrick J; Crushell, Ellen; Donnelly, Deirdre E; Alston, Charlotte L; He, Langping; McFarland, Robert; Taylor, Robert W

2012-06-01

Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, affecting a minimum of 1 in 7500 live births. The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily upon the identification of the underlying causative mutation in the individual and determination of carrier status in the parents. Isolated complex I deficiency is the most common respiratory chain defect observed in children, resulting in organ-specific or multisystem disease, but most often presenting as Leigh syndrome, for which mitochondrial DNA mutations are important causes. Several recurrent, pathogenic point mutations in the MTND3 gene - including m.10191T>C (p.Ser45Pro) - have been previously identified. In this short clinical review we evaluate the case reports of the m.10191T>C mutation causing complex I-deficient Leigh syndrome described in the literature, in addition to two new ones diagnosed in our laboratory. Both of these appear to have arisen de novo without transmission of the mutation from mother to offspring, illustrating the importance not only of fully characterizing the mitochondrial genome as part of the investigation of children with complex I-deficient Leigh syndrome but also of assessing maternal samples to provide crucial genetic advice for families. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Postural disorders in mouth breathing children: a systematic review.

PubMed

Neiva, Patricia Dayrell; Kirkwood, Renata Noce; Mendes, Polyana Leite; Zabjek, Karl; Becker, Helena Gonçalves; Mathur, Sunita

Mouth breathing syndrome can cause sleep disturbances that compromise the performance of children in school. It might also cause postural abnormalities involving the head and cervical spine; however, the association between postural abnormalities and mouth breathing in children is unclear. To assess the methodological quality of studies and determine if there is an association between mouth breathing and postural disorders in children. Databases comprised MEDLINE, CINAHL, PEDro, LILACS, EMBASE and Cochrane Central Registrar of Controlled Trials. Searches were until March 2016 and included studies that evaluated postural disorders in children diagnosed with mouth breathing. The Downs and Black checklist was used to evaluate the quality of the evidences. Ten studies were included totaling 417 children from 5 to 14 years. Two studies used the New York State Postural Rating Scale, seven used photography and one used motion capture to measure posture. The methods used to analyze the data included the Postural Analysis Software (SAPO), Fisiometer, ALCimagem and routines in MATLAB program. Quality assessment resulted in low scores (<14) for all the studies. The main areas of weakness were a clear description of the participants, of the methods used to access posture, of the principal confounders and lack of power analysis. External and internal validity were also threatened by the lack of a representative sample and blinding of the participants and assessors, respectively. The review provides low evidence that mouth-breathing pattern in children between the ages 5-14 years is associated with postural deviations. Copyright © 2017 Associação Brasileira de Pesquisa e Pós-Graduação em Fisioterapia. Publicado por Elsevier Editora Ltda. All rights reserved.

[A correlation study between diarrhea-predominant irritable bowel syndrome complicated functional dyspepsia patients of Gan-stagnation Pi-deficiency syndrome and gastrointestinal hormones].

PubMed

Zhao, Liang; Song, Wen; Zhu, Ping; Zhang, Yu; Bu, Ping

2014-10-01

To investigate the correlation between the pathogeneses of diarrhea-pre- dominant irritable bowel syndrome (D-IBS) complicated functional dyspepsia (FD) patients of Gan-stagnation Pi-deficiency Syndrome (GSPDS) and symptoms, psychological states, and gastrointestinal hormones. A total of 111 patients with confirmed D-IBS complicated FD of GSPDS were recruited as the treated group by using Rome III standard and Chinese medical syndrome standard. And 30 healthy volunteers were recruited as the control group. The general condition, scoring for digestive symptoms, and the distribution of GSPDS subtype of all subjects were recorded by a questionnaire, and assessed by Symptom Checklist (SCL-90; a software for psychological test developed by Beijing Huicheng Adult Cor- poration). Meanwhile, plasma levels of 5-hydroxytryptamine (5-HT), somatostatin (SS), vasoactive intestinal peptide (VIP), endothelin (ET), interleukin 10 (IL-10), and interleukin 12 (IL-12) were measured in all subjects. (1) The subtype of D-IBS complicated FD of GSPDS was dominant in Pi-qi deficiency type (51/111,45.9%),Pi yang deficiency type (34/111,30.6%), and GSPDS. There was no statistical difference in the scoring of digestive symptoms among the 3 subtypes (P >0.05). (2) Compared with the control group, the anxiety factor score and the total score significantly increased in all three subtypes of D-IBS complicated FD of GSPDS, and the depression score of Pi yang deficiency type and Gan-depression type also significantly increased (P <0.05, P <0.01); the depression score of Gan-depression type was significantly higher than that of the Pi-qi deficiency type (P <0.01). Plasma 5-HT levels were obviously lower in D-IBS complicated FD patients of GSPDS accompanied with anxiety or depression than in those with no obvious psychological abnormalities, and VIP and IL-10 levels were significantly lower than those in the control group (P <0.05). Plasma VIP levels were also obviously lower in D-IBS complicated FD

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

PubMed Central

2013-01-01

Background 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome. Methods A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G. Results Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

PubMed

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral

2017-04-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients' fibroblasts.

Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

ERIC Educational Resources Information Center

Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

2011-01-01

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

PubMed

Bogdanović, Radovan; Draaken, Markus; Toromanović, Alma; Dordević, Maja; Stajić, Natasa; Ludwig, Michael

2010-11-01

Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only rarely seen in Dent disease, whereas the hypokalemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism (Bartter-like syndrome) has been reported in only one patient so far. We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G>A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism persisting over the entire follow-up. No mutations were found in NKCC2, ROMK, NCCT, or ClC-Kb genes. In addition, the patient exhibited growth failure associated with partial growth hormone (GH) deficiency. Coexistence of Bartter-like syndrome features with LMWP should prompt a clinician to search for Dent disease. The Bartter syndrome phenotype seen in Dent disease patients may represent a distinct form of Bartter syndrome, the exact mechanism of which has yet to be fully elucidated. Growth delay that persists in spite of appropriate therapy should raise suspicion of other causes, such as GH deficiency.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

PubMed

Hermanns, Pia; Unger, Sheila; Rossi, Antonio; Perez-Aytes, Antonio; Cortina, Hector; Bonafé, Luisa; Boccone, Loredana; Setzu, Valeria; Dutoit, Michel; Sangiorgi, Luca; Pecora, Fabio; Reicherter, Kerstin; Nishimura, Gen; Spranger, Jürgen; Zabel, Bernhard; Superti-Furga, Andrea

2008-06-01

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

Primary postural instability: a cause of recurrent sudden falls in the elderly.

PubMed

Djaldetti, R; Lorberboym, M; Melamed, E

2006-12-01

Elderly patients with recurrent falls are frequently diagnosed with an extrapyramidal syndrome. This study aims to characterise a distinct group of patients with recurrent falls and postural instability as a hallmark of the clinical examination. The study took place in the Movement Disorders Unit, Rabin Medical Center, Petah Tiqva, Israel among 26 patients with recurrent falls who had no clinical evidence of a neurodegenerative disease. Medical records, neurological examination and brain imaging studies were assessed. Falls in these patients were sudden, unprovoked, with no vertigo or loss of consciousness. All had postural instability with minimal or no abnormality on the neurological examination. Brain imaging showed diffuse ischaemic changes in 65%. [(123)I]-FPCIT SPECT with the dopamine transporter ligand, performed in five patients, was normal in all. Recurrent falls might be caused by a neurological syndrome that primarily affects balance control. The importance of identifying this disorder is its distinction from other parkinsonian syndromes causing falls.

Genetically engineered Escherichia coli Nissle 1917 synbiotic counters fructose-induced metabolic syndrome and iron deficiency.

PubMed

Chaudhari, Archana Somabhai; Raghuvanshi, Ruma; Kumar, G Naresh

2017-06-01

Consumption of fructose leads to metabolic syndrome, but it is also known to increase iron absorption. Present study investigates the effect of genetically modified Escherichia coli Nissle 1917 (EcN) synbiotic along with fructose on non-heme iron absorption. Charles foster rats weighing 150-200 g were fed with iron-deficient diet for 2 months. Probiotic treatment of EcN (pqq) and EcN (pqq-glf-mtlK) was given once per week, 10 9  cells after 2 months with fructose in drinking water. Iron levels, blood, and liver parameters for oxidative stress, hyperglycemia, and dyslipidemia were estimated. Transferrin-bound iron levels in the blood decreased significantly after 10 weeks of giving iron-deficient diet. Probiotic treatment of EcN (pqq-glf-mtlK) and fructose together led to the restoration of normal transferrin-bound iron levels and blood and hepatic antioxidant levels as compared to iron-deficient control group. The probiotic also led to the restoration of body weight along with levels of serum and hepatic lipid, blood glucose, and antioxidant in the blood and liver as compared to iron-deficient control group. Restoration of liver injury marker enzymes was also seen. Administration of EcN-producing PQQ and mannitol dehydrogenase enzyme together with fructose led to increase in the transferrin-bound iron levels in the blood and amelioration of consequences of metabolic syndrome caused due to fructose consumption.

A syndrome of acute zinc deficiency during total parenteral alimentation in man.

PubMed Central

Kay, R G; Tasman-Jones, C; Pybus, J; Whiting, R; Black, H

1976-01-01

Changes in the plasma and urine levels of the trace metal zinc have been followed in a series of 37 adult patients totally supported by intravenous alimentation. Copper has also been determined in more recent cases. In such a seriously ill group, although urinary zinc loss may be very high at the height of catabolism, severe plasma depletion does not occur unless there is a subsequent phase of sustained anabolism and weight gain. In four patients plasma zinc fell to very low levels during this phase and three of this group developed a syndrome characterized by diarrhea, mental depression, para-nasal, oral and peri-oral dermatitis, and alopecia. The response to oral or intravenous zinc therapy is striking, except for hair regrowth which is delayed but eventually complete. The syndrome we have recognized in adult man has not been previously described. It resembles however the parakeratosis of zinc deficient swine and it is also very similar to Acrodermatitis enteropathica, a genetically determined disorder of infants very recently linked to zinc deficiency. Zinc is clearly essential to human metabolism and it should be included in all parenteral alimentation regimes particularly during the period of rapid, sustained, weight gain. Images Fig. 1. Fig. 2. Fig. 3. Fig. 6. Fig. 7. Fig. 9. Fig. 10. PMID:817677

IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.

PubMed

Laron, Zvi; Kauli, Rivka; Lapkina, Lena; Werner, Haim

Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America. Copyright © 2016 Elsevier B.V. All rights reserved.

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PubMed

Sakai, Chika; Yamaguchi, Seiji; Sasaki, Masayuki; Miyamoto, Yusaku; Matsushima, Yuichi; Goto, Yu-ichi

2015-02-01

The human ECHS1 gene encodes the short-chain enoyl coenzyme A hydratase, the enzyme that catalyzes the second step of β-oxidation of fatty acids in the mitochondrial matrix. We report on a boy with ECHS1 deficiency who was diagnosed with Leigh syndrome at 21 months of age. The patient presented with hypotonia, metabolic acidosis, and developmental delay. A combined respiratory chain deficiency was also observed. Targeted exome sequencing of 776 mitochondria-associated genes encoded by nuclear DNA identified compound heterozygous mutations in ECHS1. ECHS1 protein expression was severely depleted in the patient's skeletal muscle and patient-derived myoblasts; a marked decrease in enzyme activity was also evident in patient-derived myoblasts. Immortalized patient-derived myoblasts that expressed exogenous wild-type ECHS1 exhibited the recovery of the ECHS1 activity, indicating that the gene defect was pathogenic. Mitochondrial respiratory complex activity was also mostly restored in these cells, suggesting that there was an unidentified link between deficiency of ECHS1 and respiratory chain. Here, we describe the patient with ECHS1 deficiency; these findings will advance our understanding not only the pathology of mitochondrial fatty acid β-oxidation disorders, but also the regulation of mitochondrial metabolism. © 2014 WILEY PERIODICALS, INC.

High frequency of empty sella syndrome in children with growth hormone deficiency.

PubMed

Pocecco, M; de Campo, C; Marinoni, S; Tommasini, G; Basso, T; Muzzolini, C; Sacher, B

1989-02-01

Computer-assisted tomography (CT) with 2 mm axial sections and reconstructions was carried out in 31 children affected by GH deficiency (GHD): 18 with idiopathic complete isolated GHD, 3 with idiopathic partial isolated GHD, 2 with idiopathic panhypopituitarism, 4 with isolated acquired GHD and 4 with acquired panhypopituitarism. Density in the intrasellar area on CT corresponded to that of cerebrospinal fluid in 13/20 cases with idiopathic hypopituitarism and in 2/8 cases with acquired hypopituitarism. The overall incidence of primary empty sella syndrome (PESS) in the GH deficient patients studied was thus over 48%, while in children without endocrine dysfunction, it was only 5/213 (2.4%). It is concluded that PESS is more frequent in childhood than assumed until now and that it is frequently associated with GHD.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

PubMed Central

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M.; Yildirimli, Deniz; Maynard, Dawn M.; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C.; Huizing, Marjan; Gahl, William A.

2017-01-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients’ fibroblasts. PMID:28220259

Flexible Sensing Arrays Fabricated with Carbon Nanofiber Composite Thin Films for Posture Monitoring

NASA Astrophysics Data System (ADS)

Chang, Fuh-Yu; Wang, Ruoh-Huey; Lin, Yu-Hsien; Chen, Tse-Min; Lee, Yueh-Feng; Huang, Shu-Jiuan; Liu, Chia-Ming

2011-06-01

Faulty posture increases joint stress and causes postural pain syndrome. In this paper, we present a portable strain sensing system with flexible sensor arrays to warn patients to correct inappropriate posture. A 3×3 flexible strain sensing array system was fabricated using patterned surface treatment and the tilted-drop process with carbon nanofiber composite solutions on polyimide substrates. Atmospheric plasma was used to enhance or reduce the surface energy in specific areas for patterned surface treatment. A scanning circuit was also developed to capture the signal from the flexible sensing array. The developed system has been used to measure the bent angle of the human neck from 15 to 60°. The results indicate that human posture can be successfully captured by analyzing the measured strains from a flexible strain sensing array.

[Observation on therapeutic effect of acupuncture combined with chinese herbs on polycystic ovary syndrome of kidney deficiency and phlegm stasis type].

PubMed

Shi, Yin; Feng, Hui-jun; Liu, Hui-rong; Zhu, Dan

2009-02-01

To observe the clinical therapeutic effect of acupuncture combined with Chinese herbs on polycystic ovary syndrome of kidney deficiency and phlegm stasis type and probe into the mechanism. Sixty-three cases of polycystic ovary syndrome of kidney deficiency and phlegm stasis type were randomly divided in to a combined acupuncture and Chinese herb group (n=32) treated with acupuncture at Qihai (CV 6), Guanyuan (CV 4), et al. and oral administration of Chinese herbs, and a simple Chinese herb group (n=31) treated with oral administration of the same Chinese herbs as in the combined acupuncture and Chinese herb group. The therapeutic effects and changes of follicle stimulating hormone (FSH), luteotropic hormone (LH), testosterone (T) and LH/FSH were compared between the two groups. The total effective rate was 93.8% in the combined acupuncture and Chinese herb group and 80.6% in the simple Chinese herb group, the former being significantly better than the latter (P < 0.05). The decrease of T in the combined acupuncture and Chinese herb group was significantly su perior to that in the simple Chinese herb group (P < 0.01). Acupuncture combined with Chinese herb therapy is superior to the simple Chinese herb in the clinical therapeutic effect on polycystic ovary syndrome of kidney deficiency and phlegm stasis type and decrease of T level, indicating this method is a better one for polycystic ovary syndrome of kidney deficiency and phlegm stasis type.

Decorticate posture

MedlinePlus

Abnormal posturing - decorticate posture; Traumatic brain injury - decorticate posture ... Brain problem due to drugs, poisoning, or infection Traumatic brain injury Brain problem due to liver failure Increased pressure ...

Acquired Immune Deficiency Syndrome: A Preliminary Examination of the Effects on Gay Couples and Coupling.

ERIC Educational Resources Information Center

Carl, Douglas

1986-01-01

The Acquired Immune Deficiency Syndrome (AIDS) epidemic significantly influences attitudes about life and lifestyles. Homosexuals have to give increased consideration to coupling, the nature of coupled relationships, sex and intimacy, and death long before the normal time. Discusses impact of AIDS on the early stages of gay coupling and on the…

Decerebrate posture

MedlinePlus

... posture; Decorticate posture - decerebrate posture References Ball JW, Dains JE, Flynn JA, Solomon BS, Stewart RW. Neurologic system. In: Ball JW, Dains JE, Flynn JA, Solomon BS, Stewart RW, eds. ...

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

PubMed

Van Hulle, Severine; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J; De Schepper, Jean

2016-03-05

Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency.

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

PubMed Central

Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J.; Schepper, Jean De

2016-01-01

Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

Acquired Immune Deficiency Syndrome, AIDS: A Selected Bibliography of Federal Government Publications. Research Guide 90 104.

ERIC Educational Resources Information Center

Alexander, Margaret

This research guide presents a selected bibliography of federal government publications about the Acquired Immune Deficiency Syndrome (AIDS). These documents are listed in five categories: (1) Bibliographies (7); (2) Congressional Publications (69 hearings and reports); (3) Executive Branch Publications (43 reports); (4) Federal Government…

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PubMed

Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

2015-11-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Improvement in Functioning and Psychological Distress in Adolescents With Postural Orthostatic Tachycardia Syndrome Following Interdisciplinary Treatment.

PubMed

Bruce, Barbara K; Harrison, Tracy E; Bee, Susan M; Luedtke, Connie A; Porter, Co-Burn J; Fischer, Philip R; Hayes, Sarah E; Allman, Daniel A; Ale, Chelsea M; Weiss, Karen E

2016-12-01

Significant functional impairment and psychological distress have been observed in adolescent patients with postural orthostatic tachycardia syndrome (POTS). Interdisciplinary rehabilitation programs have been shown to be beneficial in the treatment of chronic pain in adults and adolescents. Only preliminary data have examined interdisciplinary rehabilitation efforts in patients with POTS. This study evaluated the impact of an interdisciplinary rehabilitation program on the functional impairment and psychological distress in 33 adolescents diagnosed with POTS. Patients included in the study were adolescents ages 11 to 18 diagnosed with POTS. Measures completed at admission and discharge from the program included the Functional Disability Index, Center for Epidemiological Studies-Depression-Child scale, and the Pain Catastrophizing Scale for Children. After participation in the 3-week program, adolescents with POTS demonstrated a significant increase in overall functional ability and significant reductions in depression and catastrophizing.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PubMed

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri

2014-03-01

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was developed and implemented. Overall, 22/23 (96%) of children with CMMRD developed 40 different tumours. While childhood CMMRD related tumours were observed in all families, Lynch related tumours in adults were observed in only 2/14 families (p=0.0007). All children with CMMRD had café-au-lait spots and 11/14 came from consanguineous families. Brain tumours were the most common cancers reported (48%) followed by gastrointestinal (32%) and haematological malignancies (15%). Importantly, 12 (30%) of these were low grade and resectable cancers. Tumour immunohistochemistry was 100% sensitive and specific in diagnosing mismatch repair (MMR) deficiency of the corresponding gene while microsatellite instability was neither sensitive nor specific as a diagnostic tool (p<0.0001). Furthermore, screening of normal tissue by immunohistochemistry correlated with genetic confirmation of CMMRD. The surveillance protocol detected 39 lesions which included asymptomatic malignant gliomas and gastrointestinal carcinomas. All tumours were amenable to complete resection and all patients undergoing surveillance are alive. CMMRD is a highly penetrant syndrome where family history of cancer may not be contributory. Screening tumours and normal tissues using immunohistochemistry for abnormal expression of MMR gene products may help in diagnosis and early implementation of surveillance for these children. Copyright © 2013 Elsevier Ltd. All rights reserved.

Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.

PubMed

Fikree, A; Aziz, Q; Sifrim, D

2017-06-01

The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. Thirty patients (28 female, ages: 18-62) with JHS and symptoms of reflux (n=28) ± dysphagia (n=25), underwent high-resolution manometry and 24 hour pH-impedance monitoring after questionnaire-based symptom assessment. Esophageal physiology parameters were examined in JHS, subdivided by PoTS status. Fifty-three percent of JHS patients with reflux symptoms had pathological acid reflux, 21% had reflux hypersensitivity, and 25% had functional heartburn. Acid exposure was more likely to be increased in the recumbent than upright position (64% vs 43%). The prevalence of hypotensive lower esophageal sphincter (33%) and hiatus hernia (33%) was low. Forty percent of patients with dysphagia had minor disorders of motility, 60% had functional dysphagia. Eighteen (60%) patients had coexistent PoTS-they had significantly higher dysphagia (21 vs 11.5, P=.04) and reflux scores (24.5 vs 16.5, P=.05), and double the prevalence of pathological acid reflux (64% vs 36%, P=.1) and esophageal dysmotility (50% vs 25%, P=.2) though this was not significant. A large proportion of JHS patients with esophageal symptoms have true reflux-related symptoms or mild esophageal hypomotility, and this is more likely if they have PoTS. © 2017 John Wiley & Sons Ltd.

Hematopoietic progenitor cell deficiency in fetuses and children affected by Down's syndrome.

PubMed

Holmes, Denise K; Bates, Nicola; Murray, Mary; Ladusans, E J; Morabito, Antonino; Bolton-Maggs, Paula H B; Johnston, Tracey A; Walkenshaw, Steve; Wynn, Robert F; Bellantuono, Ilaria

2006-12-01

There is an increased risk of myeloid malignancy in individuals with Down's syndrome (DS), which is associated with a mutation in exon 2 of the transcription factor GATA-1. It is recognized that there is accelerated telomere shortening in blood cells of children with DS similar to that in conditions such as Fanconi anemia and dyskeratosis congenita. The latter conditions are associated with stem cell deficiency and clonal change, including acute myeloid leukemia. In this study we address the questions 1) whether the accelerated telomere shortening is associated with progenitor/stem cell deficiency in individuals with DS, predisposing to clonal change and 2) whether the occurrence of reduced numbers of stem/progenitor cells precede the incidence of mutations in exon 2 of GATA-1. Peripheral blood from fetuses (23-35 weeks gestation) and/or bone marrow from children affected by DS and age-matched hematologically healthy controls were analyzed for telomere length, content of stem/progenitor cells, and mutations in exon 2 of GATA-1. We found that hematopoietic stem/progenitor cell deficiency and telomere shortening occurs in individuals with DS in fetal life. Moreover, the presence of a low number of progenitor cells was not associated with mutations in exon 2 of GATA-1. We propose that stem cell deficiency may be a primary predisposing event to DS leukemia development.

Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation.

PubMed

Ikeda, Keiichi; Mizuguchi, Masato; Ebisawa, Toshihiro; Yoshida, Masaki; Uchida, Hiroyuki; Okabe, Hideaki; Sekita, Toru; Tojo, Katsuyoshi; Tajima, Naoko; Hosoya, Tatsuo

2003-05-01

A 52-year-old man with Chilaiditi syndrome and mental retardation was admitted to Kanagawa Rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary.

Postural Tachycardia Syndrome (POTS)

PubMed Central

Low, Phillip A.; Sandroni, Paola; Joyner, Michael; Shen, Win-Kuang

2014-01-01

Introduction POTS is defined as the development of orthostatic symptoms associated with a heart rate (HR) increment ≥30, usually to ≥120 bpm without orthostatic hypotension. Symptoms of orthostatic intolerance are those due to brain hypoperfusion and those due to sympathetic overaction. Methods We provide a review of POTS based primarily on work from the Mayo Clinic. Results Females predominate over males by 5:1. Mean age of onset in adults is about 30 years and most patients are between the ages of 20–40 years. Pathophysiologic mechanisms (not mutually exclusive) include peripheral denervation, hypovolemia, venous pooling, β-receptor supersensitivity, psychologic mechanisms, and presumed impairment of brain stem regulation. Prolonged deconditioning may also interact with these mechanisms to exacerbate symptoms. The evaluation of POTS requires a focused history and examination, followed by tests that should include HUT, some estimation of volume status and preferably some evaluation of peripheral denervation and hyperadrenergic state. All patients with POTS require a high salt diet, copious fluids, and postural training. Many require β-receptor antagonists in small doses and low-dose vasoconstrictors. Somatic hypervigilance and psychologic factors are involved in a significant proportion of patients. Conclusions POTS is heterogeneous in presentation and mechanisms. Major mechanisms are denervation, hypovolemia, deconditioning, and hyperadrenergic state. Most patients can benefit from a pathophysiologically based regimen of management. PMID:19207771

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

PubMed

Tuppen, Helen A L; Hogan, Vanessa E; He, Langping; Blakely, Emma L; Worgan, Lisa; Al-Dosary, Mazhor; Saretzki, Gabriele; Alston, Charlotte L; Morris, Andrew A; Clarke, Michael; Jones, Simon; Devlin, Anita M; Mansour, Sahar; Chrzanowska-Lightowlers, Zofia M A; Thorburn, David R; McFarland, Robert; Taylor, Robert W

2010-10-01

Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 paediatric patients with isolated complex I deficiency, identifying pathogenic mutations in 6 patients. These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome. Three of these children harboured an identical NDUFS2 mutation (c.875T>C, p.M292T), which was also identified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian child who presented to a different diagnostic centre, with microsatellite and single nucleotide polymorphism analyses indicating that this was due to an ancient common founder event. Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes.

[Orthostatic postural tachycardia: study of 8 patients].

PubMed

Santiago Pérez, S; Ferrer Gila, T

1998-02-07

The occurrence of syncopal episodes is a very frequent event. In the absence of a structural systemic or cardiac disease, syncope is resulting of an anomalous cardiovascular response neurally mediated by the autonomic nervous system. It is the final common manifestation of different abnormal mechanisms and is frequently precipitated by orthostatism. Orthostatic intolerance syndrome refers to the development of symptoms during the upright posture that disappear in supine position. Tachycardia may be one of the clinical features of the syndrome. During orthostatic stress a hyperadrenergic response, with maintained increment of heart rate and associated symptoms, is developed. Changes in blood pressure may be diverse and in some cases hypotension and syncope occurs. Eight patients with symptoms of orthostatic intolerance who underwent autonomic evaluation and were diagnosed from postural tachycardia are presented. In all the cases an abnormal increment of heart rate during tilting was found and it was associated to hyperadrenergic symptoms. Evidence of restricted sympathetic impairment was observed in six cases with distal reduction of sudomotor function and abnormal adrenergic response during Valsalva manoeuvre. Symptoms disappeared or mostly subsided with pharmacological (amitriptyline in one case, phenobarbital in another one and non-cardioselective beta-blockers in six patients) and non-pharmacological treatment. In further examinations heart rate and blood pressure were normal.

Classification of postural profiles among mouth-breathing children by learning vector quantization.

PubMed

Mancini, F; Sousa, F S; Hummel, A D; Falcão, A E J; Yi, L C; Ortolani, C F; Sigulem, D; Pisa, I T

2011-01-01

Mouth breathing is a chronic syndrome that may bring about postural changes. Finding characteristic patterns of changes occurring in the complex musculoskeletal system of mouth-breathing children has been a challenge. Learning vector quantization (LVQ) is an artificial neural network model that can be applied for this purpose. The aim of the present study was to apply LVQ to determine the characteristic postural profiles shown by mouth-breathing children, in order to further understand abnormal posture among mouth breathers. Postural training data on 52 children (30 mouth breathers and 22 nose breathers) and postural validation data on 32 children (22 mouth breathers and 10 nose breathers) were used. The performance of LVQ and other classification models was compared in relation to self-organizing maps, back-propagation applied to multilayer perceptrons, Bayesian networks, naive Bayes, J48 decision trees, k, and k-nearest-neighbor classifiers. Classifier accuracy was assessed by means of leave-one-out cross-validation, area under ROC curve (AUC), and inter-rater agreement (Kappa statistics). By using the LVQ model, five postural profiles for mouth-breathing children could be determined. LVQ showed satisfactory results for mouth-breathing and nose-breathing classification: sensitivity and specificity rates of 0.90 and 0.95, respectively, when using the training dataset, and 0.95 and 0.90, respectively, when using the validation dataset. The five postural profiles for mouth-breathing children suggested by LVQ were incorporated into application software for classifying the severity of mouth breathers' abnormal posture.

Unusual thromboses associated with protein S deficiency in patients with acquired immunodeficiency syndrome: case reports and review of the literature.

PubMed

Dillmon, Melissa S; Saag, Michael S; Hamza, Sate H; Adler, Brian K; Marques, Marisa B

2005-09-01

Recent reports indicate that patients infected with HIV are at increased risk for the development of thrombosis. Among other possibilities, an acquired deficiency of protein S (PS), one of the plasma's natural anticoagulants, might explain this tendency. PS deficiency can be classified in three types depending on the levels of total and free protein (antigenic assays) as well as anticoagulant activity (functional assay). Although the prevalence of inherited PS deficiency is not known because of its rarity, several conditions can lead to acquired forms of the disease. We report two AIDS patients with coexistent type III PS deficiency and thrombosis. Our first patient presented with bilateral chronic leg ulcers and a skin biopsy revealed dermal microthromboses. On laboratory evaluation he had PS deficiency and was started on anticoagulation, but was lost to follow-up. The second patient presented with hepatic vein thrombosis (Budd-Chiari syndrome) and was also PS deficient. On long-term anticoagulation, she experienced resolution of the thrombosis. Neither patient had prior personal or family history of venous thrombosis, nor acquired risk factors such as immobility, acute infection, recent surgery, or hormonal therapy. The literature contains a few reports of skin ulcers and Budd-Chiari syndrome associated with PS deficiency, although none in AIDS patients. While a larger number of studies describe an association between PS deficiency and HIV infection, the causal effect of this deficiency on the thrombophilic tendency in AIDS has not been established. We propose that awareness of the increased risk for thrombosis in HIV infection is important to the understanding of disease pathophysiology and management of these patients.

Use of methylphenidate in the treatment of patients suffering from refractory postural tachycardia syndrome.

PubMed

Kanjwal, Khalil; Saeed, Bilal; Karabin, Beverly; Kanjwal, Yousuf; Grubb, Blair P

2012-01-01

Methylphenidate has been shown to be an effective therapy in patients with refractory neurocardiogenic syncope. However, the role of methylphenidate in patients suffering from postural orthostatic tachycardia (POTS) has not been reported. The study was approved by the institutional review board. A retrospective nonrandomized analysis was preformed on 24 patients evaluated at our autonomic center for POTS from 2003 to 2010. The diagnosis of POTS was based on patient history, physical examination, and response to head up tilt table testing. The mean follow-up period was 9 ± 3 months. The patients were included in the current study if they had a diagnosis of POTS with severe symptoms of orthostatic intolerance and were refractory to the commonly used medications. All of these patients were started on methylphenidate and the response to therapy was considered successful if it provided symptomatic relief. Twenty-four patients (age 28 ± 12, 20 women) met inclusion criterion for this study. The response to treatment was assed subjectively in each patient and was collected in a retrospective fashion from patient charts and physician communications. Four patients reported side effects in the form of nausea and 2 ultimately had to discontinue the treatment. Another 4 patients had a follow-up of less than 6 months. Thus, only 18 patients who received methylphenidate completed the follow-up of 6 months. Out of these 18 patients, 14 (77%) patients reported marked improvement in their symptoms. Nine out of 12 patients who had recurrent episodes of syncope reported no syncope at 6 months of follow-up. Fourteen (77%) patients reported marked improvement in their symptoms of fatigue and presyncope. Four patients continue to have symptoms of orthostatic intolerance and 3 continued to have recurrent episodes of syncope. Methylphenidate may be beneficial in patients with otherwise refractory postural tachycardia syndrome.

The clinical syndrome of specific antibody deficiency in children.

PubMed

Boyle, R J; Le, C; Balloch, A; Tang, M L-K

2006-12-01

Specific antibody deficiency (SAD) is an immune deficiency which has been reported in adults and children with recurrent respiratory tract infections; however, the clinical features of SAD are not well described. This study evaluated formally the clinical syndrome of SAD, by comparing the clinical features of children with SAD and those of children with recurrent infection but normal immune function tests. SAD was defined as an adequate IgG antibody response to less than 50% of 12 pneumococcal serotypes tested following 23-valent unconjugated pneumococcal immunization. An adequate IgG antibody response was defined as a post-immunization titre of >or= 1.3 microg/ml or >or= four times the preimmunization value. Seventy-four children with recurrent infection were evaluated where immune deficiencies other than SAD had been excluded. Eleven (14.9%) of these children had SAD. Clinical features differed between the group with SAD and the group with normal antibody responses. A history of otitis media, particularly in association with chronic otorrhoea was associated with SAD [relative risk (RR) of SAD in those with chronic otorrhoea 4.64 (P = 0.02)]. SAD was associated with allergic disease, particularly allergic rhinitis [RR of SAD in those with allergic rhinitis 3.77 (P = 0.04)]. These two clinical associations of SAD were independent in this study [RR of chronic otorrhoea in those with allergic rhinitis 0.85 (P = 0.28)]. SAD was not an age-related phenomenon in this population. SAD has a distinct clinical phenotype, presenting as recurrent infection associated with chronic otorrhoea and/or allergic disease, and the condition should be sought in children with these features.

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

PubMed

Graham, John M

2012-05-01

Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Wrist postures and forces in tree planters during three tree unloading conditions.

PubMed

Denbeigh, Kathleen; Slot, Tegan R; Dumas, Geneviève A

2013-01-01

The aims of this study were to investigate wrist postures and forces while operating the shovel during tree planting and to determine if different tree unloading techniques result in variations in wrist postures and forces. Experienced tree planters performed the planting task in a laboratory environment for three conditions: (1) symmetric tree unloading, and asymmetric unloading resulting in (2) right-loaded planting bags and (3) left-loaded planting bags. An optoelectric system and a shovel instrumented with strain gauges captured wrist posture and forces at the wrist, respectively. Wrist extension of up to 45° was observed, and this posture, in combination with varying degrees of wrist deviation, may be a primary risk factor for musculoskeletal pain. Average resultant forces at the wrist were moderately high (>30 N) for each unloading condition, indicating increased risk for the development of repetitive strain injuries such as carpal tunnel syndrome. No significant differences in wrist posture or forces existed between unloading conditions. Wrist pain is a major musculoskeletal complaint among tree planters. This study measured wrist postures and forces at the wrist while operating the shovel during tree planting. The wrist extension observed, in combination with deviation, may be a key risk factor for musculoskeletal pain. Forces at the wrist indicate increased risk for repetitive strain injuries.

Clinical characteristics of a novel subgroup of chronic fatigue syndrome patients with postural orthostatic tachycardia syndrome.

PubMed

Lewis, I; Pairman, J; Spickett, G; Newton, J L

2013-05-01

A significant proportion of patients with chronic fatigue syndrome (CFS) also have postural orthostatic tachycardia syndrome (POTS). We aimed to characterize these patients and differentiate them from CFS patients without POTS in terms of clinical and autonomic features. A total of 179 patients with CFS (1994 Centers for Disease Control and Prevention criteria) attending one of the largest Department of Health-funded CFS clinical services were included in this study. Outcome measures were as follows: (i) symptom assessment tools including the fatigue impact scale, Chalder fatigue scale, Epworth sleepiness scale (ESS), orthostatic grading scale (OGS) and hospital anxiety and depression scale (HADS-A and -D, respectively), (ii) autonomic function analysis including heart rate variability and (iii) haemodynamic responses including left ventricular ejection time and systolic blood pressure drop upon standing. CFS patients with POTS (13%, n = 24) were younger (29 ± 12 vs. 42 ± 13 years, P < 0.0001), less fatigued (Chalder fatigue scale, 8 ± 4 vs. 10 ± 2, P = 0.002), less depressed (HADS-D, 6 ± 4 vs. 9 ± 4, P = 0.01) and had reduced daytime hypersomnolence (ESS, 7 ± 6 vs. 10 ± 5, P = 0.02), compared with patients without POTS. In addition, they exhibited greater orthostatic intolerance (OGS, 11 ± 5; P < 0.0001) and autonomic dysfunction. A combined clinical assessment tool of ESS ≤9 and OGS ≥9 identifies accurately CFS patients with POTS with 100% positive and negative predictive values. The presence of POTS marks a distinct clinical group of CFS patents, with phenotypic features differentiating them from those without POTS. A combination of validated clinical assessment tools can determine which CFS patients have POTS with a high degree of accuracy, and thus potentially identify those who require further investigation and consideration for therapy to control heart rate. © 2013 The Association for the Publication of the Journal of Internal Medicine.

Posture-Motor and Posture-Ideomotor Dual-Tasking: A Putative Marker of Psychomotor Retardation and Depressive Rumination in Patients With Major Depressive Disorder.

PubMed

Aftanas, Lyubomir I; Bazanova, Olga M; Novozhilova, Nataliya V

2018-01-01

Background: Recent studies have demonstrated that the assessment of postural performance may be a potentially reliable and objective marker of the psychomotor retardation (PMR) in the major depressive disorder (MDD). One of the important facets of MDD-related PMR is reflected in disrupted central mechanisms of psychomotor control, heavily influenced by compelling maladaptive depressive rumination. In view of this we designed a research paradigm that included sequential execution of simple single-posture task followed by more challenging divided attention posture tasks, involving concurring motor and ideomotor workloads. Another difficulty dimension assumed executing of all the tasks with eyes open (EO) (easy) and closed (EC) (difficult) conditions. We aimed at investigating the interplay between the severity of MDD, depressive rumination, and efficiency of postural performance. Methods: Compared with 24 age- and body mass index-matched healthy controls (HCs), 26 patients with MDD sequentially executed three experimental tasks: (1) single-posture task of maintaining a quiet stance (ST), (2) actual posture-motor dual task (AMT); and (3) mental/imaginary posture-motor dual task (MMT). All the tasks were performed in the EO and the EC conditions. The primary dependent variable was the amount of kinetic energy ( E ) expended for the center of pressure deviations (CoPDs), whereas the absolute divided attention cost index showed energy cost to the dual-tasking vs. the single-posture task according to the formula: Δ E = ( E Dual-task - E Single-task ). Results: The signs of PMR in the MDD group were objectively indexed by deficient posture control in the EC condition along with overall slowness of fine motor and ideomotor activity. Another important and probably more challenging feature of the findings was that the posture deficit manifested in the ST condition was substantially and significantly attenuated in the MMT and AMT performance dual-tasking activity. A multiple

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

PubMed

Wimmer, Katharina; Etzler, Julia

2008-09-01

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inheritance of mutations in one of these MMR genes. The patients suffer from a condition that is characterised by the development of childhood cancers, mainly haematological malignancies and/or brain tumours, as well as early-onset colorectal cancers. Almost all patients also show signs reminiscent of neurofibromatosis type 1, mainly café au lait spots. Alluding to the underlying mechanism, this condition may be termed as "constitutional mismatch repair-deficiency (CMMR-D) syndrome". To give an overview of the current knowledge and its implications of this recessively inherited cancer syndrome we summarise here the genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this syndrome.

[Postural control disorders in initial phases of whiplash].

PubMed

Pleguezuelos Cobo, Eulogio; García-Alsina, Joan; García Almazán, Concepción; Ortiz Fandiño, Javier; Pérez Mesquida, M Engracia; Guirao Cano, Lluis; Samitier Pastor, Beatriz; Perucho Pont, Cristina; Coll Serra, Estel; Matarrubias, Carlos; Reveron, Genoveva

2009-05-02

Dizziness of variable intensity is a frequent complaint in patients who suffered whiplash and largely documented balance disturbances. The objective of the study was to identify balance disorders in early stage of whiplash after road traffic accidents. Ninety nine women were included in the study. Fifty four women had suffered whiplash within two weeks and 45 were included in a healthy control group. Static posturography on a force platform was carried out in all study participants, by means of the Romberg test in four sequential phases, using the postural sway area (SA) as a dependent variable. Visual Analogic Scale (VAS) and Northwick Park Neck Pain Questionnaire (NPH) were used to evaluate pain and function. Postural sway area increased significantly in each of the consecutive phases in both groups. The differences of the means of the postural sway area were statistically significant in all Romberg phases (p=.009 to P=.000). No correlation was found between SA and VAS or NPH scores. There was a positive correlation between the postural sway area standing on a thick foam cushion placed over the plate with closed eyes and the number of days of transitory incapacity (r=0.414; P=.009). Patients with recent whiplash show a postural control disturbance revealed trough a sequential static posturography analysis. This suggests that the balance disorder is not only a consequence of late whiplash syndrome evolution. Therefore, we should promote early instauration of a specific therapeutic approach if and when the patient refers dizziness and related symptoms.

The Relationship of Sexual Responsibility to Knowledge of Acquired Immuno-Deficiency Syndrome among High School Students.

ERIC Educational Resources Information Center

Andre, Thomas; Bormann, Lynda

Because there is no cure or vaccine for Acquired Immune Deficiency Syndrome (AIDS), many authorities have recommended education as the primary means for controlling the spread of the disease. However, knowledge about AIDS represents a necessary, but not sufficient, condition for reduction of risky behavior. Although hetereosexual high school and…

[Effect of AÇaí (Euterpe oleracea) on lipid metabolism, immune substances and endocrine hormone in rats with deficiency-heat and deficiency-cold syndrome].

PubMed

Wang, Zi-Chen; Zhang, Jian-Jun; Zhu, Ying-Li; Qu, Yan; Fei, Wen-Ting; Wang, Sha; Wang, Jing-Xia; Wang, Lin-Yuan

2017-07-01

To study the effects of AÇaí(Euterpe oleracea) on lipid metabolism, immune substances and endocrine hormone level in rats with deficiency-heat and deficiency-cold syndrome. SD rats were divided into blank control group, deficiency-heat model group, deficiency-heat & Phellodendri Cortex group, deficiency-heat & AÇaí high dose and low dose groups, deficiency-cold model group, deficiency-cold & Cinnamomi Cortex group, deficiency-cold & AÇaí high dose and low dose groups. The rats received intramuscular injection of dexamethasone sodium phosphate (0.35 mg) or hydrocortisone sodium succinate (20 mg) for 21 days to set up deficiency-heat models and deficiency-cold models. Then the changes in fatmetabolism levels (FFA, LPL, HL) and immune indexes (IgG, IgM, C3 and C4) were detected by colorimeter; and the levels of endocrine hormone indexes (CORT, E2 and T) were detected by radioimmunoassay. The levels of FFA, LPL and HL in serum were reduced (P<0.01 or P<0.001); levels of IgG, IgM and C3 in serum were increased (P<0.05 or P<0.001); level of CORT in serum was increased (P<0.05) and the level of E2, E2/T in serum were reduced in the AÇaí high dose group (P<0.05). The effect of high dose AÇaí on fat metabolism was not obvious in deficiency-cold models, but the levels of IgG, IgM, C3 and CORT in serum were increased (P<0.05 or P<0.001). AÇaí was showed the same effect trend with Phellodendri Cortex in adjusting the levels of deficiency-heat rats; but unlike Cinnamomi Cortex, AÇaí was showed no obvious effect in adjusting the levels of deficiency-cold rats. In this experiment, homogeneous comparison and heterogeneous disproof were used to verify the cold nature of Çaí. Copyright© by the Chinese Pharmaceutical Association.

Symptom Discrimination and Habituation: A Case Study of Behavioral Treatment for Postural Orthostatic Tachycardia Syndrome (POTS).

PubMed

Ralston, Timothy E; Kanzler, Kathryn E

2016-01-01

Postural orthostatic tachycardia syndrome (POTS) is a multifaceted disorder of the autonomic nervous system that profoundly impacts physical functioning. In addition to physical consequences, many patients develop situational anxiety that causes reduced activity level, which may impede functional recovery from POTS. Despite links with anxiety, to date there have been no reports of psychological intervention for POTS. Here we report a case study of POTS in a 40-year-old female serving on active duty in the US military. Because there are no established guidelines for the psychological treatment of POTS, intervention techniques were adapted for use with the patient. Elements of cognitive behavioral therapy, including in-vivo exposure and symptom discrimination, were used to target avoidance of feared situations. Over the course of treatment, the patient learned to discriminate her POTS symptoms from anxiety and displayed a significant decrease in POTS-related functional impairment. Implications for future care are discussed.

Postural Control in Young People with Visual Impairments and Various Risks of Falls

ERIC Educational Resources Information Center

Sadowska, Dorota; Stemplewski, Rafal; Szeklicki, Robert

2017-01-01

Introduction: Early diagnosis of postural control deficiencies facilitates implementation of an individual rehabilitation plan to prevent falls. The aim of the study was to assess the risk of falling in individuals with visual impairments, and to compare performance-based and theoretical limits of stability in subjects with various risks of…

Does increased postural threat lead to more conscious control of posture?

PubMed

Huffman, J L; Horslen, B C; Carpenter, M G; Adkin, A L

2009-11-01

Although it is well established that postural threat modifies postural control, little is known regarding the underlying mechanism(s) responsible for these changes. It is possible that changes in postural control under conditions of elevated postural threat result from a shift to a more conscious control of posture. The purpose of this study was to determine the influence of elevated postural threat on conscious control of posture and to determine the relationship between conscious control and postural control measures. Forty-eight healthy young adults stood on a force plate at two different surface heights: ground level (LOW) and 3.2-m above ground level (HIGH). Centre of pressure measures calculated in the anterior-posterior (AP) direction were mean position (AP-MP), root mean square (AP-RMS) and mean power frequency (AP-MPF). A modified state-specific version of the Movement Specific Reinvestment Scale was used to measure conscious motor processing (CMP) and movement self-consciousness (MSC). Balance confidence, fear of falling, perceived stability, and perceived and actual anxiety indicators were also collected. A significant effect of postural threat was found for movement reinvestment as participants reported more conscious control and a greater concern about their posture at the HIGH height. Significant correlations between CMP and MSC with AP-MP were observed as participants who consciously controlled and were more concerned for their posture leaned further away from the platform edge. It is possible that changes in movement reinvestment can influence specific aspects of posture (leaning) but other aspects may be immune to these changes (amplitude and frequency).

Droxidopa in the Treatment of Postural Orthostatic Tachycardia Syndrome.

PubMed

Ruzieh, Mohammed; Dasa, Osama; Pacenta, Ann; Karabin, Beverly; Grubb, Blair

Postural orthostatic tachycardia syndrome (POTS) is a constellation of signs and symptoms that occur when a patient is upright and relieved by recumbence. Currently, no drugs are labeled for the treatment for POTS. Droxidopa is an orally administered amino acid that is converted to norepinephrine and thought to improve both blood pressure and symptoms in patients with orthostatic intolerance. To appraise the effect of Droxidopa in a clinical setting in patients with POTS refractory to other forms of treatment. A retrospective study of patients with POTS at our Syncope and Autonomic Disorders Center. Three hundred fifty-two patients were screened, 54 of them were prescribed Droxidopa and found to be eligible to include in our study. Symptoms of orthostatic intolerance, side effects of therapy and response to treatment. Statistical analyses were done using SPSS software. Thirty-seven patients were included in data analysis. Patients who failed to follow up, didn't obtain Droxidopa due to insurance and cost concerns, had hypertensive response to therapy or had allergic reaction were excluded from data analysis. The most frequently reported symptom was dizziness in 91.9% of patients, followed by syncope and fatigue in 70.3% and 67.6% of patients, respectively. Symptoms of dizziness, syncope and fatigue were reported less after treatment; 75.7%, 51.4% and 40.5%, respectively. There was no statistically significant difference in standing or sitting blood pressure before and after treatment. Despite the improvement in some symptoms. Only 27% of patients reported improved quality of life after treatment. Of total, 40.5% of patients stopped the treatment either due to side effects or ineffectiveness. Droxidopa appears to improve some symptoms of orthostatic intolerance in patients with POTS but has diminutive impact on quality of life and blood pressure. Further assessment in large clinical trials is needed to evaluate its efficacy.

Determining postural stability

NASA Technical Reports Server (NTRS)

Forth, Katharine E. (Inventor); Paloski, William H. (Inventor); Lieberman, Erez (Inventor)

2011-01-01

A method for determining postural stability of a person can include acquiring a plurality of pressure data points over a period of time from at least one pressure sensor. The method can also include the step of identifying a postural state for each pressure data point to generate a plurality of postural states. The method can include the step of determining a postural state of the person at a point in time based on at least the plurality of postural states.

Effect of 3,4-diaminopyridine on the postural control in patients with downbeat nystagmus.

PubMed

Sprenger, Andreas; Zils, Elisabeth; Rambold, Holger; Sander, Thurid; Helmchen, Christoph

2005-04-01

Downbeat nystagmus (DBN) is a common, usually persistent ocular motor sign in vestibulocerebellar midline lesions. Postural imbalance in DBN may increase on lateral gaze when downbeat nystagmus increases. 3,4-Diaminopyridine (3,4-DAP) has been shown to suppress the slow-phase velocity component of downbeat nystagmus and its gravity-dependent component with concomitant improvement of oscillopsia. Because the pharmacological effect is thought to be caused by improvement of the vestibulocerebellar Purkinje cell activity, the effect of 3,4-DAP on the postural control of patients with downbeat nystagmus syndrome was examined. Eye movements were recorded with the video-based Eyelink II system. Postural sway and pathway were assessed by posturography in lateral gaze in the light and on eye closure. Two out of four patients showed an improvement of the area of postural sway by 57% of control (baseline) on eye closure. In contrast, downbeat nystagmus in gaze straight ahead and on lateral gaze did not benefit in these two patients, implying a specific influence of 3,4-DAP on the vestibulocerebellar control of posture. It was concluded that 3,4-DAP may particularly influence the postural performance in patients with downbeat nystagmus.

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

PubMed

Kosho, Tomoki

2016-02-01

Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

Diabetic retinopathy in two patients with congenital IGF-I deficiency (Laron syndrome).

PubMed

Laron, Zvi; Weinberger, Dov

2004-07-01

Animal and clinical studies have shown that excessive amounts of growth hormone or insulin-like growth factor-I (IGF-I) promote the development of diabetes and diabetic retinopathy. Forthwith, we present two patients with congenital IGF-I deficiency who developed type II diabetes and subsequently retinopathy. Eighteen adult patients with classical Laron syndrome (8 males, 10 females, aged 20-62 years) were followed by us since childhood or underwent fundus photography with a Nikon NF 505 instrument. Three had been treated in childhood with IGF-I, the rest were never treated, including the two patients reported. Two never-treated patients were diagnosed with type II diabetes (DM) at ages 39 and 41 respectively. There was no diabetes in the families. Oral treatment was followed by insulin injections. Metabolic control was not optimal and one patient developed proliferative diabetic retinopathy, necessitating laser surgery. He also has nephropathy and severe neuropathy. The other patient has background diabetic retinopathy and has developed, progressively, exudates, microaneurisms, hemorrhages and clinically significant macular edema. He also has subacute ischemic heart disease. Our findings show that congenital IGF-I deficiency, similar to excess, causes vascular complications of DM, denoting also that vascular endothelial growth factor can induce neovascularization in the presence of congenital IGF-I deficiency.

Oxytocin-Oxytocin Receptor Systems Facilitate Social Defeat Posture in Male Mice.

PubMed

Nasanbuyan, Naranbat; Yoshida, Masahide; Takayanagi, Yuki; Inutsuka, Ayumu; Nishimori, Katsuhiko; Yamanaka, Akihiro; Onaka, Tatsushi

2018-02-01

Social stress has deteriorating effects on various psychiatric diseases. In animal models, exposure to socially dominant conspecifics (i.e., social defeat stress) evokes a species-specific defeat posture via unknown mechanisms. Oxytocin neurons have been shown to be activated by stressful stimuli and to have prosocial and anxiolytic actions. The roles of oxytocin during social defeat stress remain unclear. Expression of c-Fos, a marker of neuronal activation, in oxytocin neurons and in oxytocin receptor‒expressing neurons was investigated in mice. The projection of oxytocin neurons was examined with an anterograde viral tracer, which induces selective expression of membrane-targeted palmitoylated green fluorescent protein in oxytocin neurons. Defensive behaviors during double exposure to social defeat stress in oxytocin receptor‒deficient mice were analyzed. After social defeat stress, expression of c-Fos protein was increased in oxytocin neurons of the bed nucleus of the stria terminalis, supraoptic nucleus, and paraventricular hypothalamic nucleus. Expression of c-Fos protein was also increased in oxytocin receptor‒expressing neurons of brain regions, including the ventrolateral part of the ventromedial hypothalamus and ventrolateral periaqueductal gray. Projecting fibers from paraventricular hypothalamic oxytocin neurons were found in the ventrolateral part of the ventromedial hypothalamus and in the ventrolateral periaqueductal gray. Oxytocin receptor‒deficient mice showed reduced defeat posture during the second social defeat stress. These findings suggest that social defeat stress activates oxytocin-oxytocin receptor systems, and the findings are consistent with the view that activation of the oxytocin receptor in brain regions, including the ventrolateral part of the ventromedial hypothalamus and the ventrolateral periaqueductal gray, facilitates social defeat posture.

Is there a relationship between gluten sensitivity and postural tachycardia syndrome?

PubMed

Penny, Hugo A; Aziz, Imran; Ferrar, Melloney; Atkinson, Jayne; Hoggard, Nigel; Hadjivassiliou, Marios; West, John N; Sanders, David S

2016-12-01

We have noticed that patients with postural tachycardia syndrome (PoTS) were placing themselves on a gluten-free diet without medical consultation. Therefore, we aimed to evaluate the prevalence of coeliac disease and self-reported gluten sensitivity in a cohort of patients with PoTS and compare this with local population data. A total of 100 patients with PoTS were recruited to complete a questionnaire that screened for gluten sensitivity, related symptoms and dietary habits. Patients were also assessed for coeliac disease. For comparison, the local coeliac prevalence was determined from a total of 1200 controls (group 1) and a further 400 controls (group 2), frequency matched for age and sex, who completed the same questionnaire. Overall, 4/100 (4%) patients with PoTS had serology and biopsy-proven coeliac disease. This was significantly higher than the local population prevalence of coeliac disease (12/1200, 1%; odds ratio: 4.1, 95% confidence interval: 1.3-13.0; P=0.03). PoTS patients also had a higher prevalence of self-reported gluten sensitivity (42 vs. 19%, respectively; odds ratio: 3.1, 95% confidence interval: 2.0-5.0; P<0.0001) compared with age-matched and sex-matched controls. This is the first study to suggest a potential association between gluten-related disorders and PoTS. A prospective study evaluating this relationship further may enable a better understanding and management of these conditions.

Sleep disturbance linked to suicidal ideation in postural orthostatic tachycardia syndrome

PubMed Central

Pederson, Cathy Lynn; Blettner Brook, Jill

2017-01-01

Objective We investigated the prevalence of suicidal ideation in relationship with symptoms of sleep disruption in people with postural orthostatic tachycardia syndrome (POTS). Methods Online surveys (including the Pittsburgh Sleep Quality Index and the Suicide Behaviors Questionnaire – Revised) were completed by 705 POTS patients and 170 non-POTS controls. Results Poor sleep quality was reported in 98.4% of POTS patients with a calculated subjective sleep efficiency of 65.4%. The POTS group’s sleep efficiency was significantly lower (t[873]= −11.32; p<0.001) and sleep disturbances because of pain were significantly higher (t[873]=15.36; p<0.001) than controls. Chi-square testing showed a larger proportion of individuals at high-risk for suicide among POTS patients than controls (c2 [1, n=875]=55.6; p<0.001). Multiple linear regression analysis showed that sleep scores (β=0.23, p<0.001), age (β=–0.03, p<0.001), and illness with POTS (β=0.68, p=0.05) were significantly associated with suicide ideation scores (F[4, 870]=38.34, p<0.001). This model explained 15% of variance (R2=0.15) in suicidal ideation scores. Conclusion Patients with POTS may suffer from increased sleep disturbance and suicidal ideation compared with the general population. Treatment to improve sleep efficiency and sleep quality is an important step toward better quality of life for POTS patients. PMID:28442939

Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia

PubMed Central

Kussman, Ashleigh; Gohara, Amira

2012-01-01

Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome. PMID:26069804

Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia.

PubMed

Kussman, Ashleigh; Gohara, Amira

2012-12-01

Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome.

[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].

PubMed

Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A; Utagawa, Claudia Yamada

2010-08-01

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

PubMed

Cariboni, Anna; André, Valentina; Chauvet, Sophie; Cassatella, Daniele; Davidson, Kathryn; Caramello, Alessia; Fantin, Alessandro; Bouloux, Pierre; Mann, Fanny; Ruhrberg, Christiana

2015-06-01

Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number of affected families and limited success in validating candidates have impeded genetic diagnoses for most patients. Using a combination of exome sequencing and computational modeling, we have identified a shared point mutation in semaphorin 3E (SEMA3E) in 2 brothers with Kallmann syndrome (KS), which causes inherited GnRH deficiency. Recombinant wild-type SEMA3E protected maturing GnRH neurons from cell death by triggering a plexin D1-dependent (PLXND1-dependent) activation of PI3K-mediated survival signaling. In contrast, recombinant SEMA3E carrying the KS-associated mutation did not protect GnRH neurons from death. In murine models, lack of either SEMA3E or PLXND1 increased apoptosis of GnRH neurons in the developing brain, reducing innervation of the adult median eminence by GnRH-positive neurites. GnRH neuron deficiency in male mice was accompanied by impaired testes growth, a characteristic feature of KS. Together, these results identify SEMA3E as an essential gene for GnRH neuron development, uncover a neurotrophic function for SEMA3E in the developing brain, and elucidate SEMA3E/PLXND1/PI3K signaling as a mechanism that prevents GnRH neuron deficiency.

Refeeding syndrome.

PubMed

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

Postural orientation and standing postural alignment in ambulant children with bilateral cerebral palsy.

PubMed

Domagalska-Szopa, Małgorzata; Szopa, Andrzej

2017-11-01

Standing postural alignment in children with cerebral palsy is usually altered by central postural control disorders. The primary aim of this study is to describe body alignment in a quiet standing position in ambulatory children with bilateral cerebral palsy compared with children with typical development. Fifty-eight children with bilateral cerebral palsy (aged 7-13years) and 45 age-matched children with typical development underwent a surface topography examination based on Moiré topography and were classified according to their sagittal postural profiles. The following eight grouping variables were extracted using a data reduction technique: angle of trunk inclination, pelvic tilt, and lordosis, the difference between kyphosis and lordosis, angle of vertebral lateral curvature, shoulder inclination, and shoulder and pelvic rotation. According to the cluster analysis results, 25% of the participants were classified into Cluster 1, 9% into Cluster 2, 49% in Cluster 3, and 17% in Cluster 4. Three different postural patterns emerged in accordance with the sagittal postural profiles in children with bilateral cerebral palsy and were defined as follows: 1) a lordotic postural pattern corresponding to forward-leaning posture; 2) a swayback postural pattern corresponding to backward-leaning posture; and 3) a balanced postural pattern corresponding to balanced posture. Copyright © 2017 Elsevier Ltd. All rights reserved.

AIDS: Acquired Immune Deficiency Syndrome, Information and Procedural Guidelines for Providing Services to Persons with AIDS/HTLV-III.

ERIC Educational Resources Information Center

Montana State Dept. of Health and Environmental Sciences, Helena.

This manual presents information about the disease, Acquired Immune Deficiency Syndrome (AIDS), and guidelines for service delivery to Montana residents who have been diagnosed with AIDS or related disorders. The first section describes the disease's causes, symptoms, and transmission; risk factors; high-risk populations; prevention suggestions;…

Adenosine receptors as markers of brain iron deficiency: Implications for Restless Legs Syndrome.

PubMed

Quiroz, César; Gulyani, Seema; Ruiqian, Wan; Bonaventura, Jordi; Cutler, Roy; Pearson, Virginia; Allen, Richard P; Earley, Christopher J; Mattson, Mark P; Ferré, Sergi

2016-12-01

Deficits of sensorimotor integration with periodic limb movements during sleep (PLMS) and hyperarousal and sleep disturbances in Restless Legs Syndrome (RLS) constitute two pathophysiologically distinct but interrelated clinical phenomena, which seem to depend mostly on alterations in dopaminergic and glutamatergic neurotransmission, respectively. Brain iron deficiency is considered as a main pathogenetic mechanism in RLS. Rodents with brain iron deficiency represent a valuable pathophysiological model of RLS, although they do not display motor disturbances. Nevertheless, they develop the main neurochemical dopaminergic changes found in RLS, such as decrease in striatal dopamine D 2 receptor density. On the other hand, brain iron deficient mice exhibit the characteristic pattern of hyperarousal in RLS, providing a tool to find the link between brain iron deficiency and sleep disturbances in RLS. The present study provides evidence for a role of the endogenous sleep-promoting factor adenosine. Three different experimental preparations, long-term (22 weeks) severe or moderate iron-deficient (ID) diets (3- or 7-ppm iron diet) in mice and short-term (3 weeks) severe ID diet (3-ppm iron diet) in rats, demonstrated a significant downregulation (Western blotting in mouse and radioligand binding saturation experiments in rat brain tissue) of adenosine A 1 receptors (A1R) in the cortex and striatum, concomitant to striatal D2R downregulation. On the other hand, the previously reported upregulation of adenosine A 2A receptors (A2AR) was only observed with severe ID in both mice and rats. The results suggest a key role for A1R downregulation in the PLMS and hyperarousal in RLS. Published by Elsevier Ltd.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.

PubMed

Burnett, Lisa C; LeDuc, Charles A; Sulsona, Carlos R; Paull, Daniel; Rausch, Richard; Eddiry, Sanaa; Carli, Jayne F Martin; Morabito, Michael V; Skowronski, Alicja A; Hubner, Gabriela; Zimmer, Matthew; Wang, Liheng; Day, Robert; Levy, Brynn; Fennoy, Ilene; Dubern, Beatrice; Poitou, Christine; Clement, Karine; Butler, Merlin G; Rosenbaum, Michael; Salles, Jean Pierre; Tauber, Maithe; Driscoll, Daniel J; Egli, Dieter; Leibel, Rudolph L

2017-01-03

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell-derived (iPSC-derived) neurons. Moreover, Nhlh2 and Pcsk1 expression were reduced in hypothalami of fasted Snord116 paternal knockout (Snord116p-/m+) mice. Hypothalamic Agrp and Npy remained elevated following refeeding in association with relative hyperphagia in Snord116p-/m+ mice. Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults. Nhlh2 has also been shown to promote Pcsk1 expression. Humans and mice deficient in PC1 display hyperphagic obesity, hypogonadism, decreased GH, and hypoinsulinemic diabetes due to impaired prohormone processing. Here, we found that Snord116p-/m+ mice displayed in vivo functional defects in prohormone processing of proinsulin, pro-GH-releasing hormone, and proghrelin in association with reductions in islet, hypothalamic, and stomach PC1 content. Our findings suggest that the major neuroendocrine features of PWS are due to PC1 deficiency.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

PubMed Central

Burnett, Lisa C.; LeDuc, Charles A.; Sulsona, Carlos R.; Paull, Daniel; Rausch, Richard; Eddiry, Sanaa; Carli, Jayne F. Martin; Morabito, Michael V.; Skowronski, Alicja A.; Hubner, Gabriela; Zimmer, Matthew; Wang, Liheng; Day, Robert; Levy, Brynn; Dubern, Beatrice; Poitou, Christine; Clement, Karine; Rosenbaum, Michael; Salles, Jean Pierre; Tauber, Maithe; Egli, Dieter

2016-01-01

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell–derived (iPSC-derived) neurons. Moreover, Nhlh2 and Pcsk1 expression were reduced in hypothalami of fasted Snord116 paternal knockout (Snord116p–/m+) mice. Hypothalamic Agrp and Npy remained elevated following refeeding in association with relative hyperphagia in Snord116p–/m+ mice. Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults. Nhlh2 has also been shown to promote Pcsk1 expression. Humans and mice deficient in PC1 display hyperphagic obesity, hypogonadism, decreased GH, and hypoinsulinemic diabetes due to impaired prohormone processing. Here, we found that Snord116p–/m+ mice displayed in vivo functional defects in prohormone processing of proinsulin, pro-GH–releasing hormone, and proghrelin in association with reductions in islet, hypothalamic, and stomach PC1 content. Our findings suggest that the major neuroendocrine features of PWS are due to PC1 deficiency. PMID:27941249

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

PubMed

Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël; Thomsen, Lise Lykke; Duno, Morten; Batbayli, Mustafa; Wibrand, Flemming; Nijtmans, Leo

2011-11-01

This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome. A genome-wide search for homozygosity was performed with the Affymetrix GeneChip 50K Xba array. The analysis revealed several homozygous regions. Three candidate genes were identified, and in one of the genes, NDUFA12, a homozygous c.178C→T mutation leading to a premature stop codon (p.Arg60X) was found. Western blot analysis showed absence of NDUFA12 protein in patient fibroblasts and functional complementation by a baculovirus system showed restoration of complex I activity. NDUFA12 mutations are apparently not a frequent cause of complex I deficiency, since mutations were not found by screening altogether 122 complex I deficient patients in two different studies. NDUFA12 encodes an accessory subunit of complex I and is a paralogue of NDUFAF2. Despite the complete absence of NDUFA12 protein, a fully assembled and enzymatically active complex I could be found, albeit in reduced amounts. This suggests that NDUFA12 is required either at a late step in the assembly of complex I, or in the stability of complex I.

The Effect of Vision on Postural Strategies in Prader-Willi Patients

ERIC Educational Resources Information Center

Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Priano, Lorenzo; Capodaglio, Paolo

2011-01-01

The aim of this study was to quantify the role of visual contribution in patients with Prader-Willi syndrome (PWS) on balance maintenance using a force platform. We enrolled 14 individuals with PWS free from conditions associated with impaired balance, 44 obese (OG) and 20 healthy controls (CG). Postural sway was measured for 60 s while standing…

Serum Protein KNG1, APOC3, and PON1 as Potential Biomarkers for Yin-Deficiency-Heat Syndrome.

PubMed

Liu, Changming; Mao, Liangen; Ping, Zepeng; Jiang, Tingting; Wang, Chong; Chen, Zhongliang; Li, Zhongjie; Li, Jicheng

2016-01-01

Yin-deficiency-heat (YDH) syndrome is a concept in Traditional Chinese Medicine (TCM) for describing subhealth status. However, there are few efficient diagnostic methods available for confirming YDH syndrome. To explore the novel method for diagnosing YDH syndrome, we applied iTRAQ to observe the serum protein profiles in YDH syndrome rats and confirmed protein levels by ELISA. A total of 92 differentially expressed proteins (63 upregulated proteins and 29 downregulated proteins), which were mainly involved in complement and coagulation cascades and glucose metabolism pathway, were identified by the proteomic experiments. Kininogen 1 (KNG1) was significantly increased ( p < 0.0001), while apolipoprotein C-III (APOC3, p < 0.005) and paraoxonase 1 (PON1, p < 0.001) were significantly decreased in the serum of YDH syndrome rats. The combination of KNG1, APOC3, and PON1 constituted a diagnostic model with 100.0% sensitivity and 85.0% specificity. The results indicated that KNG1, APOC3, and PON1 may act as potential biomarkers for diagnosing YDH syndrome. KNG1 may regulate cytokines and chemokines release in YDH syndrome, and the low levels of PON1 and APOC3 may increase oxidative stress and lipolysis in YDH syndrome, respectively. Our work provides a novel method for YDH syndrome diagnosis and also provides valuable experimental basis to understand the molecular mechanism of YDH syndrome.

Temporomandibular joint dysfunction syndrome. A clinical report.

PubMed

Passero, P L; Wyman, B S; Bell, J W; Hirschey, S A; Schlosser, W S

1985-08-01

We have presented two clinical case reports of patients with TMJ dysfunction syndrome as an example of coordinated treatments between dentists and physical therapists. The clinical profiles of these patients with craniocervical pain were compiled from comprehensive physical therapy and dental-orthopedic evaluations. The significance of the relationship between the rest position of the mandible and forward head posture has been shown by the changes observed after correction of the postural deviations and vertical resting dimensions by dental treatments and physical therapy. Additional research is necessary to determine long-term effects of this combined approach in TMJ dysfunction syndrome.

Protective effect of prone posture against hypergravity-induced arterial hypoxaemia in humans

PubMed Central

Rohdin, M; Petersson, J; Mure, M; Glenny, R W; Lindahl, S G E; Linnarsson, D

2003-01-01

Patients with acute respiratory distress syndrome have increased lung tissue weight and therefore an increased hydrostatic pressure gradient down the lung. Also, they have a better arterial oxygenation in prone (face down) than in supine (face up) posture. We hypothesized that this effect of the direction of gravity also existed in healthy humans, when increased hydrostatic gradients were induced by hypergravity. Ten healthy subjects were studied in a human centrifuge while exposed to 1 or 5 G in anterio-posterior (supine) or posterio-anterior (prone) direction. We measured blood gases using remote-controlled sampling and gas exchange by mass spectrometry. Hypergravity led to marked impairments of arterial oxygenation in both postures and more so in supine posture. At 5 G, the arterial oxygen saturation was 84.6 ± 1.2 % (mean ±s.e.m.) in supine and 89.7 ± 1.4 % in prone posture (P < 0.001 for supine vs. prone). Ventilation and alveolar PO2 were increased at 5 G and did not differ between postures. The alveolar-to-arterial PO2 difference increased at 5 G to 8.0 ± 0.2 kPa and 6.6 ± 0.3 kPa in supine and prone postures (P = 0.003). Arterial oxygenation was less impaired in prone during hypergravity due to a better-preserved alveolo-arterial oxygen transport. We speculate that mammals have developed a cardiopulmonary structure that favours function with the gravitational vector in the posterio-anterior direction. PMID:12598589

Prolonged QT Syndrome and Seizure Secondary to Alkaline Earth Metal Deficiency: A Case Report.

PubMed

McKinney, A; Keegan, B C

2011-01-01

Introduction. Alkaline earth metal deficiency is recognized as a cause of both seizure and long QT syndrome. Their deficiency can have significant repercussions on the function of cells, tissues, and organs of the body. An understanding of the role of electrolytes allows an appreciation of the significance of depleted levels on cell function. Case Report. A 65-year-old lady was admitted with symptoms of chest discomfort, vomiting, increased stoma output, and dizziness. Two days following admission she suffered a tonic-clonic seizure. ECG review demonstrated a prolonged QTc interval, raising the possibility of an underlying Torsades de Pointes as the precipitant. This was attributed to electrolyte disturbance arising as a result of multiple aetiologies. Discussion. This paper highlights the multisystem effects of electrolyte disturbance, with emphasis upon its role in precipitating cardiac arrhythmia and neurological symptoms.

Familial orthostatic tachycardia due to norepinephrine transporter deficiency

NASA Technical Reports Server (NTRS)

Robertson, D.; Flattem, N.; Tellioglu, T.; Carson, R.; Garland, E.; Shannon, J. R.; Jordan, J.; Jacob, G.; Blakely, R. D.; Biaggioni, I.

2001-01-01

Orthostatic intolerance (OI) or postural tachycardia syndrome (POTS) is a syndrome primarily affecting young females, and is characterized by lightheadedness, palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. There is typically tachycardia and raised plasma norepinephrine levels on upright posture, but little or no orthostatic hypotension. The pathophysiology of OI is believed to be very heterogeneous. Most studies of the syndrome have focused on abnormalities in norepinephrine release. Here the hypothesis that abnormal norepinephrine transporter (NET) function might contribute to the pathophysiology in some patients with OI was tested. In a proband with significant orthostatic symptoms and tachycardia, disproportionately elevated plasma norepinephrine with standing, impaired systemic, and local clearance of infused tritiated norepinephrine, impaired tyramine responsiveness, and a dissociation between stimulated plasma norepinephrine and DHPG elevation were found. Studies of NET gene structure in the proband revealed a coding mutation that converts a highly conserved transmembrane domain Ala residue to Pro. Analysis of the protein produced by the mutant cDNA in transfected cells demonstrated greater than 98% reduction in activity relative to normal. NE, DHPG/NE, and heart rate correlated with the mutant allele in this family. CONCLUSION: These results represent the first identification of a specific genetic defect in OI and the first disease linked to a coding alteration in a Na+/Cl(-)-dependent neurotransmitter transporter. Identification of this mechanism may facilitate our understanding of genetic causes of OI and lead to the development of more effective therapeutic modalities.

Vitamin D deficiency intensifies deterioration of risk factors, such as male sex and absence of vision, leading to increased postural body sway.

PubMed

Krause, Matthias; Anschütz, Wilma; Vettorazzi, Eik; Breer, Stefan; Amling, Michael; Barvencik, Florian

2014-01-01

Due to inconsistent findings, the influence of vitamin D on postural body sway (PBS) is currently under debate. This study evaluated the impact of vitamin D on PBS with regards to different foot positions and eye opening states in community-dwelling older individuals. In a cross-sectional study, we assessed PBS in 342 older individuals (264 females [average age (± SD): 68.3 ± 9.0 years], 78 males [65.7 ± 9.6 years]). A detailed medical history and vitamin D level were obtained for each individual. Fall risk was evaluated using the New York-Presbyterian Fall Risk Assessment Tool (NY PFRA). PBS parameters (area, distance, velocity, frequency) were evaluated on a pressure plate with feet in closed stance (CS) or hip-width stance (HWS), open eyes and closed eyes. Statistical analysis included logarithmic mixed models for repeated measures with the MIXED model procedure to test the influence of vitamin D (categorized in <10 μg/l, 10-20 μg/l, 21-30 μg/l, >30 μg/l), foot position, eye opening state, age, sex and frequency of physical activity on PBS. Vitamin D was not an independent risk factor for falls experienced in the last 12 months. Nonetheless, PBS was higher in patients with vitamin D deficiency (<10 μg/l) in HWS (A/P p=0.028 and area p=0.037). Additionally, vitamin D deficiency intensified the deleterious effects of male sex (distance p=0.002) and absence of vision (area p<0.001) on PBS. Independent risk factors for increased PBS like male sex and absence of vision are additionally compromised by vitamin D deficiency. Copyright © 2013 Elsevier B.V. All rights reserved.

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.

PubMed

Clark, Joseph F; Cecil, Kim M

2015-03-01

Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination. The objective of this review is to provide the clinician with an overview of the current information available on identifying and treating these conditions. We explain the salient features of creatine metabolism, synthesis, and transport required for normal development. We propose diagnostic approaches for confirming a CCDS diagnosis. Finally, we describe treatment approaches for managing patients with these conditions.

A survey of children affected by ectomermal dysplasia syndromes shows an increased prevalence of atopic disorders and immune deficiency

USDA-ARS?s Scientific Manuscript database

Ectodermal dysplasia (ED) syndromes are rare genetic disorders that affect the development of tissues derived from the embryonic ectoderm. Studies and anecdotal experience have indicated that atopic disorders (AD) and immune deficiencies (ID) may be associated with ED in children. Some ED genotypes ...

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

PubMed

Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén

2016-01-01

Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tsigos, C.; Arai, K.; Latronico, A.C.

1995-07-01

Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loopmore » of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.« less

Interactions between posture and locomotion: motor patterns in humans walking with bent posture versus erect posture.

PubMed

Grasso, R; Zago, M; Lacquaniti, F

2000-01-01

Human erect locomotion is unique among living primates. Evolution selected specific biomechanical features that make human locomotion mechanically efficient. These features are matched by the motor patterns generated in the CNS. What happens when humans walk with bent postures? Are normal motor patterns of erect locomotion maintained or completely reorganized? Five healthy volunteers walked straight and forward at different speeds in three different postures (regular, knee-flexed, and knee- and trunk-flexed) while their motion, ground reaction forces, and electromyographic (EMG) activity were recorded. The three postures imply large differences in the position of the center of body mass relative to the body segments. The elevation angles of the trunk, pelvis, and lower limb segments relative to the vertical in the sagittal plane, the ground reaction forces and the rectified EMGs were analyzed over the gait cycle. The waveforms of the elevation angles along the gait cycle remained essentially unchanged irrespective of the adopted postures. The first two harmonics of these kinematic waveforms explain >95% of their variance. The phase shift but not the amplitude ratio between the first harmonic of the elevation angle waveforms of adjacent pairs was affected systematically by changes in posture. Thigh, shank, and foot angles covaried close to a plane in all conditions, but the plane orientation was systematically different in bent versus erect locomotion. This was explained by the changes in the temporal coupling among the three segments. For walking speeds >1 m s(-1), the plane orientation of bent locomotion indicates a much lower mechanical efficiency relative to erect locomotion. Ground reaction forces differed prominently in bent versus erect posture displaying characteristics intermediate between those typical of walking and those of running. Mean EMG activity was greater in bent postures for all recorded muscles independent of the functional role. The waveforms

[Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

PubMed

Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

2010-11-01

To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P < 0.01); the occurrences of MS and PDS were highly positively correlated with levels of FINS and HOMA-IR (P < 0.01); incidence of MS in patients of PDS pattern was significantly higher than those in patients of non-PDS pattern (P < 0.05); presenting of PDS was positively related with the existence of MS (P < 0.05), but in case of the FINS or HOMA-IR factor being controlled, statistical meaning of the relativity between them turned to insignificant (P > 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

AIDS: Acquired Immune Deficiency Syndrome; Information and Procedural Guidelines for Providing Services to Persons with AIDS/HIV. Revised.

ERIC Educational Resources Information Center

Montana State Dept. of Health and Environmental Sciences, Helena. Health Education Bureau.

This volume consists of updated information to be inserted into a Montana AIDS Project manual on providing services to persons with acquired immune deficiency syndrome/human immunodeficiency virus (AIDS/HIV), originally published in December 1985. The updates are mainly statistics and terminology, along with the addition of several new sections.…

[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].

PubMed

Wei, Xiao-Qiong; Kong, Qing-Peng; Zhang, Yao; Yang, Yan-Ling; Chang, Xing-Zhi; Qi, Yu; Qi, Zhao-Yue; Xiao, Jiang-Xi; Qin, Jiong; Wu, Xi-Ru

2009-05-01

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs', cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study, a Chinese child with Leigh syndrome caused by 13513G>A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized epilepsy at 12 years of age. When he visited Peking University First Hospital at 13 years of age, he had subacute loss of vision in two eyes and temporal defect of visual field in the left eye. He walked with a spastic gait. His blood lactate and pyruvate levels were elevated. Muscle biopsy showed mild lipid accumulation in muscle fiber. An electrocardiogram showed incomplete right bundle branch block. Brain magnetic resonance imaging showed bilateral, symmetrical lesions in the basal ganglia, supporting the diagnosis of Leigh syndrome. 13513G>A mutation was identified by gene analysis in the patient, which led to mitochondrial respiratory chain complex I deficiency. Multivitamins and L-carnitine were administered. At present, the patient is 16 years old and has progressive deterioration with significant muscle weakness and body weight loss. He is absent from school. He has no obvious retardation in intelligence. 13513G>A mutation was first identified by gene analysis in Chinese population with Leigh syndrome. This may be helpful in genetic counseling.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

PubMed

Chol, M; Lebon, S; Bénit, P; Chretien, D; de Lonlay, P; Goldenberg, A; Odent, S; Hertz-Pannier, L; Vincent-Delorme, C; Cormier-Daire, V; Rustin, P; Rötig, A; Munnich, A

2003-03-01

Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinct from typical Leigh syndrome. Brain MRI consistently showed a specific involvement of the substantia nigra and medulla oblongata sparing the basal ganglia. Variable degrees of heteroplasmy were found in all tissues tested and a high percentage of mutant mtDNA was observed in muscle. The asymptomatic mothers presented low levels of mutant mtDNA in blood leucocytes. This mutation, which affects an evolutionary conserved amino acid (D393N), has been previously reported in adult patients with MELAS or LHON/MELAS syndromes, emphasising the clinical heterogeneity of mitochondrial DNA mutations. Since the G13513A mutation was found in 21% of our patients with Leigh syndrome and complex I deficiency (3/14), it appears that this mutation represents a frequent cause of Leigh-like syndrome, which should be systematically tested for molecular diagnosis in affected children and for genetic counselling in their maternal relatives.

Certain cardiovascular indices predict syncope in the postural tachycardia syndrome

NASA Technical Reports Server (NTRS)

Sandroni, P.; Opfer-Gehrking, T. L.; Benarroch, E. E.; Shen, W. K.; Low, P. A.

1996-01-01

Patients with postural tachycardia syndrome (POTS) represent a patient population with orthostatic intolerance; some are prone to syncope, others are not. The underlying neurocardiovascular mechanisms are not completely understood. The current study was undertaken to assess if certain cardiovascular indices are predictive of syncope in POTS. We compared the response to tilt-up and the Valsalva maneuver in four groups: POTS patients who fainted (POTS-f; n = 11;31 +/- 11 years): POTS patients who did not faint (POTS-nf; n = 9; 29 +/- 9 years); normal controls (NLS; n = 13; 39 +/- 11 years); patients with generalized autonomic failure with orthostatic hypotension and syncope (n = 10; 59 +/- 14 years). Beat-to-beat heart rate (HR), systolic arterial pressure, diastolic arterial pressure (DAP) and pulse pressure (PP) were monitored using Finapres. Cardiac output, stroke volume (SV) and end-diastolic volume (EDV), and calculated total peripheral resistance (TPR) were recorded using thoracic electrical bioimpedance. An autonomic reflex screen which quantitates the distribution and severity of autonomic failure was also done. With the patient supine, all POTS patients (POTS-nf; POTS-f) had increased HR (p < 0.001) and reduced SV/EDV (p < 0.001) when compared with NLS. On tilt-up, POTS-f patients were significantly different from both NLS and POTS-nf patients; the most consistent alteration was a fall instead of an increase in TPR; other changes were a greater reduction in PP, a reduction (instead of an increment) in DAP, and a different pattern of changes during the Valsalva maneuver (excessive early phase II, attenuated or absent late phase II). Our results suggest alpha-adrenergic impairment with increased pooling or hypovolemia in POTS-f patients. We conclude that it is possible to identify the mechanism of syncope in POTS patients, and perhaps other patients with orthostatic intolerance and an excessive liability to syncope.

Effect of vitamin D deficiency in Korean patients with acute respiratory distress syndrome.

PubMed

Park, Sojung; Lee, Min Gi; Hong, Sang-Bum; Lim, Chae-Man; Koh, Younsuck; Huh, Jin Won

2018-06-20

Vitamin D modulates innate and adaptive immune responses, and vitamin D deficiency is associated with increased mortality in hospitalized patients with pneumonia. We evaluated the prevalence of vitamin D deficiency in Korean patients with acute respiratory distress syndrome (ARDS) and its effect on the clinical outcomes of ARDS. We retrospectively analyzed the data of 108 patients who had a measured serum level of 25-hydroxy vitamin D3 (25(OH)D3) at the time of diagnosis with ARDS. The clinical outcomes were evaluated based on 25(OH)D3 levels of 20 ng/mL and stratified by quartiles of 25(OH)D3 levels. The mean age of patients was 59.4 years old; 77 (71.3%) were male. Vitamin D deficiency was found in 103 patients (95.4%). The mean 25(OH)D3 level was 8.3 ± 7.0 ng/mL. Neither in-hospital mortality (40.0% vs. 68.0%) nor 6-month mortality (40.0% vs. 71.8%) significantly differed between groups. There were no significant differences in 25(OH)D3 level between survivors (8.1 ± 7.6 ng/mL) and non-survivors (8.5 ± 6.8 ng/mL, p = 0.765). There were no trends toward a difference in mortality among quartiles of 25(OH)D3 levels. However, 25(OH)D3 levels were inversely related with length of hospital stay and intensive care unit stay among in-hospital survivors. Vitamin D deficiency was prevalent in Korean patients with ARDS. However, levels of vitamin D were not associated with mortality. A large, prospective study is needed to evaluate the effects of vitamin D deficiency on clinical outcomes of ARDS.

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

PubMed

Luna-Sánchez, Marta; Hidalgo-Gutiérrez, Agustín; Hildebrandt, Tatjana M; Chaves-Serrano, Julio; Barriocanal-Casado, Eliana; Santos-Fandila, Ángela; Romero, Miguel; Sayed, Ramy Ka; Duarte, Juan; Prokisch, Holger; Schuelke, Markus; Distelmaier, Felix; Escames, Germaine; Acuña-Castroviejo, Darío; López, Luis C

2017-01-01

Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain, but it also has several other functions in the cellular metabolism. One of them is to function as an electron carrier in the reaction catalyzed by sulfide:quinone oxidoreductase (SQR), which catalyzes the first reaction in the hydrogen sulfide oxidation pathway. Therefore, SQR may be affected by CoQ deficiency. Using human skin fibroblasts and two mouse models with primary CoQ deficiency, we demonstrate that severe CoQ deficiency causes a reduction in SQR levels and activity, which leads to an alteration of mitochondrial sulfide metabolism. In cerebrum of Coq9 R239X mice, the deficit in SQR induces an increase in thiosulfate sulfurtransferase and sulfite oxidase, as well as modifications in the levels of thiols. As a result, biosynthetic pathways of glutamate, serotonin, and catecholamines were altered in the cerebrum, and the blood pressure was reduced. Therefore, this study reveals the reduction in SQR activity as one of the pathomechanisms associated with CoQ deficiency syndrome. © 2016 The Authors. Published under the terms of the CC BY 4.0 license.

An active balance board system with real-time control of stiffness and time-delay to assess mechanisms of postural stability.

PubMed

Cruise, Denise R; Chagdes, James R; Liddy, Joshua J; Rietdyk, Shirley; Haddad, Jeffrey M; Zelaznik, Howard N; Raman, Arvind

2017-07-26

Increased time-delay in the neuromuscular system caused by neurological disorders, concussions, or advancing age is an important factor contributing to balance loss (Chagdes et al., 2013, 2016a,b). We present the design and fabrication of an active balance board system that allows for a systematic study of stiffness and time-delay induced instabilities in standing posture. Although current commercial balance boards allow for variable stiffness, they do not allow for manipulation of time-delay. Having two controllable parameters can more accurately determine the cause of balance deficiencies, and allows us to induce instabilities even in healthy populations. An inverted pendulum model of human posture on such an active balance board predicts that reduced board rotational stiffness destabilizes upright posture through board tipping, and limit cycle oscillations about the upright position emerge as feedback time-delay is increased. We validate these two mechanisms of instability on the designed balance board, showing that rotational stiffness and board time-delay induced the predicted postural instabilities in healthy, young adults. Although current commercial balance boards utilize control of rotational stiffness, real-time control of both stiffness and time-delay on an active balance board is a novel and innovative manipulation to reveal balance deficiencies and potentially improve individualized balance training by targeting multiple dimensions contributing to standing balance. Copyright © 2017 Elsevier Ltd. All rights reserved.

Postural Control in Bilateral Vestibular Failure: Its Relation to Visual, Proprioceptive, Vestibular, and Cognitive Input.

PubMed

Sprenger, Andreas; Wojak, Jann F; Jandl, Nico M; Helmchen, Christoph

2017-01-01

Patients with bilateral vestibular failure (BVF) suffer from postural and gait unsteadiness with an increased risk of falls. The aim of this study was to elucidate the differential role of otolith, semicircular canal (SSC), visual, proprioceptive, and cognitive influences on the postural stability of BVF patients. Center-of-pressure displacements were recorded by posturography under six conditions: target visibility; tonic head positions in the pitch plane; horizontal head shaking; sensory deprivation; dual task; and tandem stance. Between-group analysis revealed larger postural sway in BVF patients on eye closure; but with the eyes open, BVF did not differ from healthy controls (HCs). Head tilts and horizontal head shaking increased sway but did not differ between groups. In the dual task condition, BVF patients maintained posture indistinguishable from controls. On foam and tandem stance, postural sway was larger in BVF, even with the eyes open. The best predictor for the severity of bilateral vestibulopathy was standing on foam with eyes closed. Postural control of our BVF was indistinguishable from HCs once visual and proprioceptive feedback is provided. This distinguishes them from patients with vestibulo-cerebellar disorders or functional dizziness. It confirms previous reports and explains that postural unsteadiness of BVF patients can be missed easily if not examined by conditions of visual and/or proprioceptive deprivation. In fact, the best predictor for vestibular hypofunction (VOR gain) was examining patients standing on foam with the eyes closed. Postural sway in that condition increased with the severity of vestibular impairment but not with disease duration. In the absence of visual control, impaired otolith input destabilizes BVF with head retroflexion. Stimulating deficient SSC does not distinguish patients from controls possibly reflecting a shift of intersensory weighing toward proprioceptive-guided postural control. Accordingly, proprioceptive

Postural Control in Bilateral Vestibular Failure: Its Relation to Visual, Proprioceptive, Vestibular, and Cognitive Input

PubMed Central

Sprenger, Andreas; Wojak, Jann F.; Jandl, Nico M.; Helmchen, Christoph

2017-01-01

Patients with bilateral vestibular failure (BVF) suffer from postural and gait unsteadiness with an increased risk of falls. The aim of this study was to elucidate the differential role of otolith, semicircular canal (SSC), visual, proprioceptive, and cognitive influences on the postural stability of BVF patients. Center-of-pressure displacements were recorded by posturography under six conditions: target visibility; tonic head positions in the pitch plane; horizontal head shaking; sensory deprivation; dual task; and tandem stance. Between-group analysis revealed larger postural sway in BVF patients on eye closure; but with the eyes open, BVF did not differ from healthy controls (HCs). Head tilts and horizontal head shaking increased sway but did not differ between groups. In the dual task condition, BVF patients maintained posture indistinguishable from controls. On foam and tandem stance, postural sway was larger in BVF, even with the eyes open. The best predictor for the severity of bilateral vestibulopathy was standing on foam with eyes closed. Postural control of our BVF was indistinguishable from HCs once visual and proprioceptive feedback is provided. This distinguishes them from patients with vestibulo-cerebellar disorders or functional dizziness. It confirms previous reports and explains that postural unsteadiness of BVF patients can be missed easily if not examined by conditions of visual and/or proprioceptive deprivation. In fact, the best predictor for vestibular hypofunction (VOR gain) was examining patients standing on foam with the eyes closed. Postural sway in that condition increased with the severity of vestibular impairment but not with disease duration. In the absence of visual control, impaired otolith input destabilizes BVF with head retroflexion. Stimulating deficient SSC does not distinguish patients from controls possibly reflecting a shift of intersensory weighing toward proprioceptive-guided postural control. Accordingly, proprioceptive

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

PubMed

Yahyaoui, Raquel; Espinosa, María Gracia; Gómez, Celia; Dayaldasani, Anita; Rueda, Inmaculada; Roldán, Ana; Ugarte, Magdalena; Lastra, Gonzalo; Pérez, Vidal

2011-11-01

Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism. Copyright © 2011 Elsevier Inc. All rights reserved.

Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.

PubMed

Ahadova, Aysel; Gallon, Richard; Gebert, Johannes; Ballhausen, Alexej; Endris, Volker; Kirchner, Martina; Stenzinger, Albrecht; Burn, John; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

2018-07-01

Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7%) out of 640 adenomas (95% CI: 73.3% to 79.8%) from Lynch syndrome mutation carriers. Histologically normal MMR-deficient crypts were found directly adjacent to dysplastic adenoma tissue, proving their role as tumor precursors in Lynch syndrome. Accordingly, mutation signature analysis in Lynch colorectal cancers revealed that KRAS and APC mutations commonly occur after the onset of MMR deficiency. Tumors lacking evidence of polypous growth frequently presented with CTNNB1 and TP53 mutations. Our findings demonstrate that Lynch syndrome colorectal cancers can develop through three pathways, with MMR deficiency commonly representing an early and possibly initiating event. This underlines that targeting MMR-deficient cells by chemoprevention or vaccines against MMR deficiency-induced frameshift peptide neoantigens holds promise for tumor prevention in Lynch syndrome. © 2018 UICC.

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

PubMed

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

PubMed

Bruwer, Zandrè; Algar, Ursula; Vorster, Alvera; Fieggen, Karen; Davidson, Alan; Goldberg, Paul; Wainwright, Helen; Ramesar, Rajkumar

2014-04-01

Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.

Postural Compensation for Unilateral Vestibular Loss

PubMed Central

Peterka, Robert J.; Statler, Kennyn D.; Wrisley, Diane M.; Horak, Fay B.

2011-01-01

Postural control of upright stance was investigated in well-compensated, unilateral vestibular loss (UVL) subjects compared to age-matched control subjects. The goal was to determine how sensory weighting for postural control in UVL subjects differed from control subjects, and how sensory weighting related to UVL subjects’ functional compensation, as assessed by standardized balance and dizziness questionnaires. Postural control mechanisms were identified using a model-based interpretation of medial–lateral center-of-mass body-sway evoked by support-surface rotational stimuli during eyes-closed stance. The surface-tilt stimuli consisted of continuous pseudorandom rotations presented at four different amplitudes. Parameters of a feedback control model were obtained that accounted for each subject’s sway response to the surface-tilt stimuli. Sensory weighting factors quantified the relative contributions to stance control of vestibular sensory information, signaling body-sway relative to earth-vertical, and proprioceptive information, signaling body-sway relative to the surface. Results showed that UVL subjects made significantly greater use of proprioceptive, and therefore less use of vestibular, orientation information on all tests. There was relatively little overlap in the distributions of sensory weights measured in UVL and control subjects, although UVL subjects varied widely in the amount they could use their remaining vestibular function. Increased reliance on proprioceptive information by UVL subjects was associated with their balance being more disturbed by the surface-tilt perturbations than control subjects, thus indicating a deficiency of balance control even in well-compensated UVL subjects. Furthermore, there was some tendency for UVL subjects who were less able to utilize remaining vestibular information to also indicate worse functional compensation on questionnaires. PMID:21922014

Artificial Intelligence Software for Assessing Postural Stability

NASA Technical Reports Server (NTRS)

Lieberman, Erez; Forth, Katharine; Paloski, William

2013-01-01

A software package reads and analyzes pressure distributions from sensors mounted under a person's feet. Pressure data from sensors mounted in shoes, or in a platform, can be used to provide a description of postural stability (assessing competence to deficiency) and enables the determination of the person's present activity (running, walking, squatting, falling). This package has three parts: a preprocessing algorithm for reading input from pressure sensors; a Hidden Markov Model (HMM), which is used to determine the person's present activity and level of sensing-motor competence; and a suite of graphical algorithms, which allows visual representation of the person's activity and vestibular function over time.

Toxoplasmosis presenting as panhypopituitarism in a patient with the acquired immune deficiency syndrome.

PubMed

Milligan, S A; Katz, M S; Craven, P C; Strandberg, D A; Russell, I J; Becker, R A

1984-10-01

A 57-year-old man with a prior episode of lymphatic toxoplasmosis presented with signs of anterior panhypopituitarism, which was confirmed by standard endocrinologic evaluation. The diagnosis of central nervous system toxoplasmosis was established by brain biopsy after nondiagnostic serologic and radiographic studies. At autopsy, the anterior pituitary was necrotic, with Toxoplasma abscesses in neighboring brain structures. Clinical and laboratory data met the criteria for the acquired immune deficiency syndrome. Although this is the first reported case of toxoplasmosis presenting as panhypopituitarism, future cases may be identified since central nervous system toxoplasmosis is being recognized more frequently in patients with immunodeficiency.

Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair.

PubMed

Lurie, R; Ben-Amitai, D; Laron, Z

2004-01-01

Classical Laron syndrome is a recessive disease of primary insulin-like growth factor 1 (IGF-1) deficiency and primary growth hormone insensitivity. Affected children have, among other defects, sparse hair growth and frontal recessions. The hair is thin and easy to pluck. Young adults have various degrees of alopecia, more pronounced in males. The aim of the present study was to investigate the effect of primary IGF-1 deficiency on hair structure. The study sample included 11 patients with Laron syndrome--5 children (2 untreated) and 6 adults (5 untreated). Hairs were examined by light and electron microscopy. The most significant structured defect, pili torti et canaliculi, was found in 2 young, untreated patients. Grooving, tapered hair and trichorrhexis nodosa were found in the remainder. IGF-1-treated patients had either none or significantly fewer pathological changes compared to the untreated patients. This is the first documentation of the role of primary IGF-1 deficiency on hair structure in human beings. Copyright 2004 S. Karger AG, Basel

Postural orientation and equilibrium processes associated with increased postural sway in autism spectrum disorder (ASD).

PubMed

Wang, Zheng; Hallac, Rami R; Conroy, Kaitlin C; White, Stormi P; Kane, Alex A; Collinsworth, Amy L; Sweeney, John A; Mosconi, Matthew W

2016-01-01

Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibrium, may provide key insights into neurophysiological mechanisms associated with ASD. Postural orientation refers to children's ability to actively align their trunk and head with respect to their base of support, while postural equilibrium is an active process whereby children coordinate ankle dorsi-/plantar-flexion and hip abduction/adduction movements to stabilize their upper body. Dynamic engagement of each of these control processes is important for maintaining postural stability, though neither postural orientation nor equilibrium has been studied in ASD. Twenty-two children with ASD and 21 age and performance IQ-matched typically developing (TD) controls completed three standing tests. During static stance, participants were instructed to stand as still as possible. During dynamic stances, participants swayed at a comfortable speed and magnitude in either anterior-posterior (AP) or mediolateral (ML) directions. The center of pressure (COP) standard deviation and trajectory length were examined to determine if children with ASD showed increased postural sway. Postural orientation was assessed using a novel virtual time-to-contact (VTC) approach that characterized spatiotemporal dimensions of children's postural sway (i.e., body alignment) relative to their postural limitation boundary, defined as the maximum extent to which each child could sway in each direction. Postural equilibrium was quantified by evaluating the amount of shared or mutual information of COP time series measured along the AP and ML directions. Consistent with prior studies, children with ASD showed increased postural sway during both static and dynamic stances relative to TD children. In regard to postural orientation processes, children with ASD demonstrated reduced spatial

Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

PubMed

Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

2017-06-01

Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

Body posture modulates action perception.

PubMed

Zimmermann, Marius; Toni, Ivan; de Lange, Floris P

2013-04-03

Recent studies have highlighted cognitive and neural similarities between planning and perceiving actions. Given that action planning involves a simulation of potential action plans that depends on the actor's body posture, we reasoned that perceiving actions may also be influenced by one's body posture. Here, we test whether and how this influence occurs by measuring behavioral and cerebral (fMRI) responses in human participants predicting goals of observed actions, while manipulating postural congruency between their own body posture and postures of the observed agents. Behaviorally, predicting action goals is facilitated when the body posture of the observer matches the posture achieved by the observed agent at the end of his action (action's goal posture). Cerebrally, this perceptual postural congruency effect modulates activity in a portion of the left intraparietal sulcus that has previously been shown to be involved in updating neural representations of one's own limb posture during action planning. This intraparietal area showed stronger responses when the goal posture of the observed action did not match the current body posture of the observer. These results add two novel elements to the notion that perceiving actions relies on the same predictive mechanism as planning actions. First, the predictions implemented by this mechanism are based on the current physical configuration of the body. Second, during both action planning and action observation, these predictions pertain to the goal state of the action.

Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases

ClinicalTrials.gov

2018-02-06

Severe Combined Immunodeficiency (SCID); Immunodeficiency With Predominant T-cell Defect, Unspecified; Severe Chronic Neutropenia; Chronic Granulomatous Disease (CGD); Hyper IgE Syndromes; Hyper IgM Deficiencies; Wiskott-Aldrich Syndrome; Mendelian Susceptibility to Mycobacterial Disease; Common Variable Immune Deficiency (CVID)

[Distribution characteristics of basic syndromes of chronic functional constipation and its related factors analysis].

PubMed

Zhao, Lei; Liao, Xiu-jun; Yang, Guan-gen; Mao, Wei-ming; Zhang, Xiu-feng; Deng, Qun; Wu, Wen-jing

2014-10-01

To explore the distribution characteristics of basic syndromes and its related factors in patients with chronic functional constipation (CFC). The complete data of 538 patients with CFC were collected and initial database was established with Epidata 3. 0. TCM syndrome typing was performed. The distribution characteristics of basic syndromes were analyzed using SPSS 17. 0 Software. The univariate and multivariate Logistic regression analyses were performed with SPSS 17. 0 Software to determine basic syndrome related factors such as age, engaged professionals, sleep quality, depression, mental stress, interpersonal relations, work fatigue, stimulating beverage, exercise conditions, Western medicine type of constipation, and so on. The TCM syndrome frequency of CFC patients was sequenced from high to low as qi deficiency syndrome (380 cases, 70.6%), qi stagnation syndrome (337 cases, 62.6%), blood deficiency syndrome (234 cases, 43.5%), yin deficiency syndrome (220 cases, 40.9%), yang deficiency syndrome (197 cases, 36.6%), and others(58 cases, 10. 8%) . Most patients were complicated with complex syndromes, and the most common complex syndromes were qi deficiency complicated qi stagnation syndrome (275 cases, 51.1%) and qi deficiency complicated blood deficiency syndrome (222 cases, 41.3%). Aging, work fatigue, and exercise conditions were main related factors for qi deficiency syndrome (P <0. 01, P <0. 05). Poor emotional (depression and anxiety tendencies), mental stress, interpersonal relations, defecation barriers constipation were main related factors for qi stagnation syndrome (P <0.01). Sleep quality and poor emotional (depression and anxiety tendencies) were main related factors for blood deficiency syndrome (P <0. 01, P < 0.05). Stimulating beverages were main related factor for yin deficiency syndrome (P <0.05). Engaged in mental work and slow transit constipation were main related factors for yang deficiency syndrome (P < 0. 01, P <0. 05). CFC is featured

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PubMed Central

Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H.; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly

2015-01-01

Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8+ T-cells had a senescent CCR7-CD127−CD28−CD57+ phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21− CD11c+ phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias. PMID:25414442

Development of Human Posture Simulation Method for Assessing Posture Angles and Spinal Loads

PubMed Central

Lu, Ming-Lun; Waters, Thomas; Werren, Dwight

2015-01-01

Video-based posture analysis employing a biomechanical model is gaining a growing popularity for ergonomic assessments. A human posture simulation method of estimating multiple body postural angles and spinal loads from a video record was developed to expedite ergonomic assessments. The method was evaluated by a repeated measures study design with three trunk flexion levels, two lift asymmetry levels, three viewing angles and three trial repetitions as experimental factors. The study comprised two phases evaluating the accuracy of simulating self and other people’s lifting posture via a proxy of a computer-generated humanoid. The mean values of the accuracy of simulating self and humanoid postures were 12° and 15°, respectively. The repeatability of the method for the same lifting condition was excellent (~2°). The least simulation error was associated with side viewing angle. The estimated back compressive force and moment, calculated by a three dimensional biomechanical model, exhibited a range of 5% underestimation. The posture simulation method enables researchers to simultaneously quantify body posture angles and spinal loading variables with accuracy and precision comparable to on-screen posture matching methods. PMID:26361435

VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS).

PubMed

Krzemień, Grazyna; Turczyn, Agnieszka; Szmigielska, Agnieszka; Roszkowska-Blaim, Maria

2015-01-01

Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually to megaloblastic anemia and mild proteinuria. We described two pairs of siblings in two families with IGS. The diagnosis in first family (two brothers) was established at 33 and 22 months of age. The reason for diagnostic tests were proteinuria and anemia. Apart from respiratory tract infections, they didn't present other symptoms of cobalamin deficiency. In the second family IGS was diagnosed in children at 5 and 8 years of age. Diagnostic evaluation procedures wereperformedbecause ofneurologicalsigns, including weakness, loss of appetite, dysmorphia, psychomotor retardation. Laboratory tests revealed megaloblastic anemia, low concentration of vitamin B12 in serum and mild proteinuria. In the first pair low concentration of vitamin B12 was validated by the Schilling test, in the second pair methylomalonate acid was detected in the urinary metabolic test. All children were successfully treated with vitamin B12 and anemia and neurological signs disappeared. Long-term follow up showed failure to thrive in the girl and physical and mental retardation, microcephaly in her brother. Proteinuria in the range: 0.3-1.2 g/24 h was detected in each child, and the other laboratory tests were normal. Clinical symptoms, laboratory tests and good reaction to parenteral treatment with vitamin B12 allowed us to diagnose Imerslund-Grasbeck syndrome, even without genetic tests. A delayed diagnosis of congenital malabsorption of cobalamin can lead to physical and mental retardation in children. Children with megaloblastic anemia and proteinuria resistant to classical treatment should be tested for

Tenascin-x deficiency mimics ehlers-danlos syndrome in mice through alteration of collagen deposition

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mao, J.R.; Taylor, G.; Dean, W.B.

2002-03-01

Tenascin-X is a large extracellular matrix protein of unknown function1-3. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome4,5, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens6. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme7-14, we suggested that tenascin-X might regulate collagen synthesis or deposition15. To test this hypothesis, we inactivated Tnxb in mice. Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin. The skin of Tnxb-/- mice was histologicallymore » normal, but its collagen content was significantly reduced. At the ultrastructural level, collagen fibrils of Tnxb-/- mice were of normal size and shape, but the density of fibrils in their skin was reduced, commensurate with the reduction in collagen content. Studies of cultured dermal fibroblasts showed that although synthesis of collagen I by Tnxb-/- and wildtype cells was similar, Tnxb-/- fibroblasts failed to deposit collagen I into cell-associated matrix. This study confirms a causative role for TNXB in human Ehlers-Danlos syndrome and suggests that tenascin-X is an essential regulator of collagen deposition by dermal fibroblasts.« less

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

PubMed

Montero, Raquel; Pineda, Mercé; Aracil, Asun; Vilaseca, Maria-Antonia; Briones, Paz; Sánchez-Alcázar, José-Antonio; Navas, Plácido; Artuch, Rafael

2007-01-01

Coenzyme Q(10) (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency associated with cerebellar ataxia and cerebellar atrophy as the main neurological signs. Biochemically, the hallmark of CoQ deficiency syndrome is a decreased CoQ concentration in muscle and/or fibroblasts. There is no molecular evidence of the enzyme or gene involved in primary CoQ deficiencies associated with cerebellar ataxia, although recently a family has been reported with mutations at COQ2 gene who present a distinct phenotype. Patients with primary CoQ deficiency may benefit from CoQ supplementation, although the clinical response to this therapy varies even among patients with similar phenotypes. Some present an excellent response to CoQ while others show only a partial improvement of some symptoms and signs. CoQ deficiency is the mitochondrial encephalomyopathy with the best clinical response to CoQ supplementation, highlighting the importance of an early identification of this disorder.

[The changes in renin-angiotensin-aldosterone-system in different subtypes of Cushing's syndrome].

PubMed

Cui, Jia; Dou, Jingtao; Yang, Guoqing; Zang, Li; Jin, Nan; Chen, Kang; Du, Jin; Gu, Weijun; Wang, Xianling; Yang, Lijuan; Lyu, Zhaohui; Ba, Jianming; Mu, Yiming; Lu, Juming; Li, Jiangyuan; Pan, Changyu

2015-07-01

Cushing's syndrome is a clinical condition resulting from chronic exposure to excess glucocorticoid. As a consequence, long-term hypercortisolism contributes significantly to the development of systemic disorders by direct and/or indirect effects. The present study was to analyze the changes of renin-angiotensin-aldosterone-system in different subtypes of Cushing's syndrome on the standard posture test. We retrospectively reviewed 150 patients with histologically confirmed Cushing's syndrome treated at the PLA General Hospital between 2002 and 2014. Among them, 128 patients were diagnosed as adreno-cortico-tropic-hormone (ACTH)-independent Cushing's syndrome, and 22 were ACTH-dependent Cushing's syndrome. All patients were undertaken the posture test. Plasma renin activity (PRA), angiotensin II, plasma aldosterone concertration (PAC) levels were measured before and after the test. Basal plasma PRA [0.5 (0.2,1.3)µg·L(-1)·h(-1), angiotensin II [(48.9±20.1) ng/L] and PAC [(285.0±128.1) pmol/L] levels were within the normal range in supine position. Compared with the subjects with ACTH-independent Cushing's syndrome, the basal PAC levels were higher in subjects with ACTH-dependent Cushing's syndrome [(348.0±130.4) pmol/L vs (274.2±125.0) pmol/L, P<0.05]. However, the PAC response in subjects with ACTH-dependent Cushing's syndrome [(49.7±26.4)%] was significantly lower than that in those with ACTH-independent Cushing's syndrome [(81.2±69.3)%] upon upright posture stimulation (P<0.05). There were no statistical significances in PRA and angiotensin II levels between the two groups. The basal PAC and PRA levels were positively correlated with ACTH, whereas PAC response was negatively correlated with ACTH. The renin-angiotensin-aldosterone-system activity in subjects with Cushing's syndrome was similar to that in normal control. The basal PAC level and its response to upright posture are differently associated with ACTH level in Cushing's syndrome.

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

PubMed

Majewski, F; Rosendahl, W; Ranke, M; Nolte, K

1981-03-01

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients

ERIC Educational Resources Information Center

Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

Comparison of isometric cervical flexor and isometric cervical extensor system exercises on patients with neuromuscular imbalance and cervical crossed syndrome associated forward head posture.

PubMed

Lee, Jaejin; Kim, Dohyeon; Yu, Kyunghoon; Cho, Youngki; You, Joshua H

2018-01-01

Isometric cervical flexor system exercise (ICF) and isometric cervical extensor system exercise (ICE) are cervical stabilization techniques that have been used to restore cervical crossed syndrome (CCS)-associated forward head posture. However, the therapeutic effects and underlying motor control mechanisms remain elusive. The purpose of present study was investigating the concurrent therapeutic effects of ICF and ICE on muscle size, muscle imbalance ratio, and muscle recruitment sequence using ultrasound imaging and electromyography. A total of 18 participants (7 females; age=24±4.0 years) with CCS associated with forward head posture underwent ICF and ICE. Paired t-test analysis was used for statistical analysis. Paired t-test analysis showed that sternocleidomastoid thickness was greater during ICF than ICE. Similarly, cross-sectional area and horizontal thickness of the longus colli were greater during ICE than ICF. The upper trapezius/lower trapezius muscle imbalance ratio and the pectoralis major/lower trapezius muscle imbalance ratio were significantly decreased during the application of ICE compared to ICF. These results provide compelling, mechanistic evidence as to how ICE is more beneficial for the restoration of neuromuscular imbalance than ICF in individuals with CCS.

Primary and secondary CoQ(10) deficiencies in humans.

PubMed

Quinzii, Catarina M; Hirano, Michio

2011-01-01

CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis variably contribute to the pathogenesis of primary CoQ(10) deficiencies. Copyright © 2011 International Union of Biochemistry and Molecular Biology, Inc.

Vitamin D Deficiency is Prevalent in Females with Rett Syndrome

PubMed Central

Motil, Kathleen J.; Barrish, Judy O.; Lane, Jane; Geerts, Suzanne P.; Annese, Fran; McNair, Lauren; Percy, Alan K.; Skinner, Steven A; Neul, Jeffrey L.; Glaze, Daniel G.

2013-01-01

Objectives To determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D [25(OH)D] levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in females with Rett syndrome (RTT). Study design Retrospective review of the medical records of 284 females with RTT to determine serum 25(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status. Results Twenty percent of females who were tested (n=157) had 25(OH)D levels <50 nmol/L. Multivitamin supplements, vitamin D fortified milk, and commercial formulas were consumed by 40%, 52%, and 54%. Anticonvulsants were used by 57% and 39% ambulated independently. Median 25(OH)D levels were lower in individuals who did not receive multivitamin supplements (p<0.05) or commercial formulas (p<0.001) than in those who did. Median 25(OH)D levels differed (p<0.01) among racial and ethnic groups, but the number in some groups was small. Nutritional status, use of anticonvulsants, degree of mobility, and MECP2 status did not influence 25(OH)D levels. Conclusion Vitamin D deficiency is prevalent in females with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D levels. Attention to vitamin D may enhance bone mineral deposition and reduce the frequency of bone fractures in these individuals. PMID:21637127

Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome.

PubMed

Walsh, Patrick R; Johnson, Sally; Brocklebank, Vicky; Salvatore, Jacobo; Christian, Martin; Kavanagh, David

2018-02-01

A 4-year-old boy presented with nonimmune hemolysis, thrombocytopenia, and acute kidney injury. Investigations for an underlying cause failed to identify a definitive cause and a putative diagnosis of complement-mediated atypical hemolytic uremic syndrome (aHUS) was made. The patient was started initially on plasma exchange and subsequently eculizumab therapy, after which his kidney function rapidly improved. While on eculizumab therapy, despite adequate complement blockade, he presented 2 more times with hemolytic anemia and thrombocytopenia, but without renal involvement. Genetic analysis did not uncover a mutation in any known aHUS gene (CFH, CFI, CFB, C3, CD46, THBD, INF2, and DGKE) and anti-factor H antibodies were undetectable. Whole-exome sequencing was undertaken to identify a cause for the eculizumab resistance. This revealed a pathogenic variant in G6PD (glucose-6-phosphate dehydrogenase), which was confirmed by functional analysis demonstrating decreased erythrocyte G6PD activity. Eculizumab therapy was withdrawn. Complement-mediated aHUS is a diagnosis of exclusion and this case highlights the diagnostic difficulty that remains without an immediately available biomarker for confirmation. This case of G6PD deficiency presented with a phenotype clinically indistinguishable from complement-mediated aHUS. We recommend that G6PD deficiency be included in the differential diagnosis of patients presenting with aHUS and suggest measuring erythrocyte G6PD concentrations in these patients. Copyright © 2017. Published by Elsevier Inc.

Diagnosis and treatment of GH deficiency in Prader-Willi syndrome.

PubMed

Grugni, Graziano; Marzullo, Paolo

2016-12-01

Prader-Willi syndrome (PWS) results from under-expression of the paternally-derived chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both quantitative and qualitative defects of the GH/IGF-I axis revealing GH deficiency (GHD) have been demonstrated in most children with PWS. In PWS adults, criteria for GHD are biochemically fulfilled in 8-38% of the studied cohorts. Published data support benefits of early institution of GH therapy (GHT) in PWS children, with positive effects on statural growth, body composition, metabolic homeostasis, and neurocognitive function. Like in pediatric PWS, GHT also yields beneficial effects on lean and body fat, exercise capacity, and quality of life of PWS adults. Although GHT has been generally administered safely in PWS children and adults, careful surveillance of risks is mandatory during prolonged GH replacement for all PWS individuals. Copyright © 2016 Elsevier Ltd. All rights reserved.

Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

PubMed

Jiao, Yang; Li, Guangxin; Korneva, Arina; Caulk, Alexander W; Qin, Lingfeng; Bersi, Matthew R; Li, Qingle; Li, Wei; Mecham, Robert P; Humphrey, Jay D; Tellides, George

2017-05-01

Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN , the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined. We quantified determinants of luminal stenosis in thoracic aortas of Eln -/- mice incompletely rescued by human ELN . Moderate obstruction was largely because of deficient circumferential growth, most prominently of ascending segments, despite increased axial growth. Medial thickening was evident in these smaller diameter elastin-deficient aortas, with medial area similar to that of larger diameter control aortas. There was no difference in cross-sectional SMC number between mutant and wild-type genotypes at multiple stages of postnatal development. Decreased elastin content was associated with medial fibrosis and reduced aortic distensibility because of increased structural stiffness but preserved material stiffness. Elastin-deficient SMCs exhibited greater contractile-to-proliferative phenotypic modulation in vitro than in vivo. We confirmed increased medial collagen without evidence of increased medial area or SMC number in a small ascending aorta with thickened media of a Williams syndrome subject. Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency. Our findings suggest that diverse aortic manifestations in Williams syndrome result from graded elastin content, and SMC hyperplasia causing medial expansion requires additional elastin loss superimposed on ELN haploinsufficiency. © 2017 American Heart Association, Inc.

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

PubMed

Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N; Grossfeld, Paul D; Manabe, Toshiya; Akiyama, Tetsu

2016-03-16

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

PubMed Central

Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N.; Grossfeld, Paul D.; Manabe, Toshiya; Akiyama, Tetsu

2016-01-01

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients. PMID:26979507

Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.

PubMed

Reis, Sofia; Matias, Joana; Machado, Raquel; Monteiro, José Paulo

2018-05-05

The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded. Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children.

Idiopathic orthostatic intolerance and postural tachycardia syndromes

NASA Technical Reports Server (NTRS)

Jacob, G.; Biaggioni, I.; Robertson, D. (Principal Investigator)

1999-01-01

Upright posture imposes a substantial gravitational stress on the body, for which we are able to compensate, in large part because of the autonomic nervous system. Alteration in autonomic function, therefore, may lead to orthostatic intolerance. On one extreme, patients with autonomic failure caused by degenerative loss of autonomic function are severely disabled by orthostatic hypotension and may faint whenever they stand up. Fortunately, such patients are relatively rare. On the other hand, disabling orthostatic intolerance can develop in otherwise normal young people. These patients can be severely impaired by symptoms of fatigue, tachycardia, and shortness of breath when they stand up. The actual incidence of this disorder is unknown, but these patients make up the largest group of patients referred to centers that specialize in autonomic disorders. We will review recent advances made in the understanding of this condition, potential pathophysiological mechanisms that contribute to orthostatic intolerance, therapeutic alternatives currently available for the management of these patients, and areas in which more research is needed.

Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

PubMed

Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

2015-12-01

To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,P<0.05). In addition, depression (79.9%) and HIV/AIDS-related symptoms such as fatigue (42.3%), back aches (40.7%), lack of appetite (33.9%), night sweats (31.7%) were more common among abnormal savda syndrome patients (P<0.05). Abnormal savda syndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

PubMed

Ilenčíková, D

2012-01-01

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.

Select Personality Characteristic Differences between Caregivers for Persons with Acquired Immune Deficiency Syndrome and Caregivers for Other Types of Illness.

ERIC Educational Resources Information Center

Angel, Daniel Scott; Heritage, Jeannette

The purpose of this study was to analyze select personality characteristics of individuals working within the Acquired Immune Deficiency Syndrome (AIDS) population in comparison to non-AIDS caregivers by using two personality assessment instruments. Subjects were from two health care provider populations. Two hundred research packets were…

Coping Strategies of Patients with Haemophilia as a Risk Group for AIDS (Acquired Immune Deficiency Syndrome). Brief Research Report.

ERIC Educational Resources Information Center

Naji, Simon; And Others

1986-01-01

Plans are described for a 2-year project whose major focus is the identification of ways in which patients with hemophilia and their families assimilate, interpret, and act on information about Acquired Immune Deficiency Syndrome (AIDS). Findings will be related to perceived risk, anxiety levels, and the development of coping strategies.…

Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited.

PubMed

Niu, Yu-Qiong; Yang, Jin-Chen; Hall, Deborah A; Leehey, Maureen A; Tassone, Flora; Olichney, John M; Hagerman, Randi J; Zhang, Lin

2014-04-01

Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest tremor or postural instability) mostly in premutation carriers without a diagnosis of FXTAS. The current study was intended to elaborate this important aspect of the FXTAS spectrum, and to quantify the relationships between parkinsonism, FXTAS clinical staging and genetic/molecular measures. Thirty eight (38) FXTAS patients and 10 age-matched normal controls underwent a detailed neurological examination that included all but one item (i.e. rigidity) of the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS). The FXTAS patient group displayed substantially higher prevalence of parkinsonian features including body bradykinesia (57%) and rest tremor (26%), compared to the control group. Furthermore, parkinsonism was identified in 29% of FXTAS patients. Across all patients, body bradykinesia scores significantly correlated with FXTAS clinical stage, FMR1 mRNA level, and ataxic gait of cerebellar origin, while postural instability was associated with intention tremor. Parkinsonian features in FXTAS appear to be characterized as bradykinesia concurrent with cerebellar gait ataxia, postural instability accompanied by intention tremor, and frequent rest tremor, representing distinctive patterns that highlight the need for further clinical studies including genetic testing for the FMR1 premutation. The association between FMR1 mRNA level and bradykinesia implicates pathophysiological mechanisms which may link FMR1 mRNA toxicity, dopamine deficiency and parkinsonism in FXTAS. Copyright © 2014 Elsevier Ltd. All rights reserved.

Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin.

PubMed

Kafkas, N V; Liakos, C I; Mouzarou, A G

2015-06-01

Aspirin is an important drug in acute coronary syndromes (ACS) and percutaneous coronary interventions (PCI). However, its use is contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency (risk for haemolytic anaemia). We report the management of 2 patients with class II G6PD deficiency and non-ST-segment elevation ACS (NSTE-ACS). The two patients were safely and efficiently treated with dual antiplatelet treatment (DAPT, aspirin plus ticagrelor) and PCI using new-generation drug-eluting stent (DES) despite G6PD deficiency. NSTE-ACS management with DAPT and DES is probably safe and effective in class II G6PD-deficient patients. © 2015 John Wiley & Sons Ltd.

Epidemiology of SHOX deficiency.

PubMed

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

Vitamin D status in relation to postural stability in the elderly.

PubMed

Boersma, D; Demontiero, O; Mohtasham Amiri, Z; Hassan, S; Suarez, H; Geisinger, D; Suriyaarachchi, P; Sharma, A; Duque, G

2012-03-01

Postural instability (PI) is an important risk factor for falls, especially in the frail older population. In this study, we investigated the impact of vitamin D deficiency on PI in a sample of community dwelling older subjects. Our objective was to determine the potential association between vitamin D deficiency and PI in older fallers. Cross-sectional study. Falls and Fractures Clinic, Department of Geriatric Medicine, Nepean Hospital, Penrith, Australia. One hundred and forty-five adults aged 65 years and older who have had at least one episode of a fall within the six months prior to assessment at the Falls and Fractures Clinic. Serum 25(OH) vitamin D3 [25(OH)D3] and parathyroid hormone concentrations were determined at baseline. Subjects were separated into 3 groups based on serum 25(OH)D3 levels with the following cut-off values: < 30 nmol/L (deficient), 30-50 nmol/L (insufficient) and > 50 nmol/L (normal). Other baseline measurements included body mass index, mini-nutritional assessment, grip strength, serum calcium concentration and creatinine clearance, which were used as covariables. PI was assessed using a computerized virtual reality system (Medicaa, Uruguay). Measured parameters included limits of stability (LOS) and centre of pressure (COP) under eyes closed on foam (ECF) and visio-vestibular stimulation. The estimated swaying area, computed from the ellipse of confidence under eyes closed standing on foam (ECF), was also used as a PI parameter. Gait velocity (GV) was measured using a GaitRITE walkway system. Posture was impaired in vitamin D deficiency (<30 nmol/L) as indicated by lower LOS (90 +/- 18), higher ECF (25 +/- 10) and slower GV (55 +/- 7) as compared with the insufficient and normal groups. After adjustment for demographic, biochemical and anthropometric variables, vitamin D deficiency significantly correlated with low LOS and high COP under ECF. Low levels of vitamin D were associated with PI. This association could also have an effect

Reiter's Syndrome.

PubMed

Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

1979-01-01

A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

ClinicalTrials.gov

2018-04-24

SCID; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

PubMed

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P

2015-05-07

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.

Dopamine homeostasis: brain functional connectivity in reward deficiency syndrome.

PubMed

Febo, Marcelo; Blum, Kenneth; Badgaiyan, Rajendra D; Baron, David; Thanos, Panayotis K; Colon-Perez, Luis M; Demortrovics, Zsolt; Gold, Mark S

2017-01-01

Reward deficiency syndrome (RDS) was first proposed by Kenneth Blum in 1995 to provide a clinically relevant and predictive term for conditions involving deficits in mesocorticolimbic dopamine function. Genetic, molecular, and neuronal alterations in key components of this circuitry contribute to a reward deficit state that can drive drug-seeking, consumption, and relapse. Among the dysfunctions observed in RDS are dysregulated resting state networks, which recently have been assessed in detail in chronic drug users by, positron emission tomography, functional magnetic resonance imaging, and functional connectivity analysis. A growing number of studies are helping to determine the putative roles of dopamine and glutamatergic neurotransmission in the regulation of activity in resting state networks, particularly in brain reward circuitry affected in drug use disorders. Indeed, we hypothesize in the present review that loss of homeostasis of these systems may lead to 'unbalanced' functional networks that might be both cause and outcome of disrupted synaptic communication between cortical and subcortical systems essential for controlling reward, emotional control, sensation seeking, and chronic drug use.

Can postural modification reduce kinetic and kinematic loading during the bowing postures of Islamic prayer?

PubMed

AbouHassan, J; Milosavljevic, S; Carman, A

2010-12-01

As stooped postures are known to increase kinematic and kinetic loading on the lumbar spine they can be problematic for people with low back pain and postural task modification is often recommended. For the Muslim with low back pain, the bowing postures during prayer can aggravate low back symptoms. The aims of this study were to describe lumbo-sacral and pelvic tilt kinematics and lumbo-sacral kinetics during the standard bowing postures of Islam and to compare these to kinematic and kinetic data gathered during a clinically recommended modified bowing posture. The study was a repeated measures within subject cross-over design with 33 healthy male Muslim participants. 3-D motion analysis data were gathered to calculate body joint angles during the two bowing postures. A 3-D biomechanical model was then used to calculate spinal loads. Paired t-test analyses showed that the use of the modified posture resulted in significantly less pelvic tilt range of motion and anterior shear force and compressive force L5/S1, at stages 1 and 5 of bowing. Although this study was conducted with healthy young Muslim males, the use of this modified bent knee posture is recommended for all Muslims with low back pain. Clinical trials are being considered to determine the clinical utility of this postural manoeuvre as an intervention. STATEMENT OF RELEVANCE: The presence of low back pain may hinder a Muslim's ability to use the traditional Islamic bowing posture. Muslims who have low back pain may benefit from adopting a modification to the traditional bowing posture, which has been found to reduce the loads and postural demands on the lower back.

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

PubMed Central

Asakura, Yumi; Muroya, Koji; Hanakawa, Junko; Sato, Takeshi; Aida, Noriko; Narumi, Satoshi; Hasegawa, Tomonobu; Adachi, Masanori

2015-01-01

Abstract Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation. The substituted amino acid was located on the third intracellular loop of the PROKR2 protein, which is a G protein-coupled receptor. Computational analyses with two programs (SIFT and PolyPhen-2) showed that the substitution was deleterious to PROKR2 function. The p.R248W mutation was transmitted from the patient’s mother, who had a slightly delayed menarche. Collectively, we provide further genetic evidence linking heterozygous PROKR2 mutations and the development of CPHD. PMID:25678757

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

PubMed

Asakura, Yumi; Muroya, Koji; Hanakawa, Junko; Sato, Takeshi; Aida, Noriko; Narumi, Satoshi; Hasegawa, Tomonobu; Adachi, Masanori

2015-01-01

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation. The substituted amino acid was located on the third intracellular loop of the PROKR2 protein, which is a G protein-coupled receptor. Computational analyses with two programs (SIFT and PolyPhen-2) showed that the substitution was deleterious to PROKR2 function. The p.R248W mutation was transmitted from the patient's mother, who had a slightly delayed menarche. Collectively, we provide further genetic evidence linking heterozygous PROKR2 mutations and the development of CPHD.

[Study on the Chinese medical syndrome distribution of ulcerative colitis].

PubMed

Lu, Yong-Hui; Cong, Long-Ling

2012-04-01

To study on the Chinese medicine (CM) syndrome distribution of ulcerative colitis (UC) and the distribution of CM syndrome types at different staging periods. From March 2007 to April 2010, 110 UC out- or inpatients at the Department of Digestive Diseases of Guangzhou Municipal Hospital of Traditional Chinese Medicine were recruited. The patients' symptoms were calculated. The systematic clustering was used. The symptom was taken as the variable in the clustering. The syndrome types were confirmed according to the clustering results. The syndrome typing was performed and its results were analyzed. There were 64 main symptoms in UC patients, including diarrhea, mushy stool, watery stool, abdominal pain, and bloody stool. Seventy cases belonged to the active period and 40 to the remission period. The UC syndrome types were sequenced from high to low as the dampness-heat of Dachang syndrome, Pi-Wei qi deficiency syndrome, Gan depression and Pi deficiency syndrome, Pi-Shen yang deficiency syndrome, blood stasis in the intestinal collaterals syndrome, yin and blood deficiency syndrome. There was statistical difference in the case number among different syndrome types (P < 0.05). In the active period, dominated were the dampness-heat of Dachang syndrome (28 cases, 25.5%), Gan depression and Pi deficiency syndrome (14 cases, 12.7%), and blood stasis in the intestinal collaterals syndrome (10 cases, 9.0%). In the remission period, dominated were Pi-Wei qi deficiency syndrome (18 cases, 16.4%) and Pi-Shen yang deficiency syndrome (10 cases, 9.0%), showing statistical difference (P<0.05). The typical symptoms of patients of the dampness-heat of Dachang syndrome were sequenced from high to low as yellow tongue fur (31 cases, 28.1%), tenesmus (26 cases, 23.6%), mucopurulent bloody stool (25 cases, 227%), diarrhea (24 cases, 21.8%), anal burning (24 cases, 21.8%), watery stool (21 cases, 19.0%), abdominal pain (19 cases, 17.2%), red tongue (19 cases, 17.2%), and greasy tongue

Effect of visual attention on postural control in children with attention-deficit/hyperactivity disorder.

PubMed

Bucci, Maria Pia; Seassau, Magali; Larger, Sandrine; Bui-Quoc, Emmanuel; Gerard, Christophe-Loic

2014-06-01

We compared the effect of oculomotor tasks on postural sway in two groups of ADHD children with and without methylphenidate (MPH) treatment against a group of control age-matched children. Fourteen MPH-untreated ADHD children, fourteen MPH-treated ADHD children and a group of control children participated to the study. Eye movements were recorded using a video-oculography system and postural sway measured with a force platform simultaneously. Children performed fixation, pursuits, pro- and anti-saccades. We analyzed the number of saccades during fixation, the number of catch-up saccades during pursuits, the latency of pro- and anti-saccades; the occurrence of errors in the anti-saccade task and the surface and mean velocity of the center of pressure (CoP). During the postural task, the quality of fixation was significantly worse in both groups of ADHD children with respect to control children; in contrast, the number of catch-up saccades during pursuits, the latency of pro-/anti-saccades and the rate of errors in the anti-saccade task did not differ in the three groups of children. The surface of the CoP in MPH-treated children was similar to that of control children, while MPH-untreated children showed larger postural sway. When performing any saccades, the surface of the CoP improved with respect to fixation or pursuits tasks. This study provides evidence of poor postural control in ADHD children, probably due to cerebellar deficiencies. Our study is also the first to show an improvement on postural sway in ADHD children performing saccadic eye movements. Copyright © 2014 Elsevier Ltd. All rights reserved.

Postural education and behavior among students in a city in southern Brazil: student postural education and behavior

PubMed Central

Fonseca, Cíntia Detsch; Cardoso dos Santos, Antônio; Candotti, Cláudia Tarragô; Noll, Matias; Luz, Anna Maria Hecker; Corso, Carlos Otávio

2015-01-01

[Purpose] The aim of the present study was to assess the knowledge of the spine and posture among adolescent female students and to determine if they had access to postural education in or outside school. [Subjects and Methods] This was an epidemiological survey of a representative sample of 495 female students aged 14 to 18 years attending a regular secondary school in São Leopoldo, RS, Brazil. Data were collected through a questionnaire. [Results] The results showed that 16.8% of teens did not know what a spine was, 8.3% had no knowledge of posture, and 61% reported receiving no posture education. Posture awareness was associated only with posture while using a computer, while having postural education class was not associated with any postural behavior. [Conclusion] The results showed that, although most students are familiar with the spine and posture, a sizable group is not, and over half had no postural education. These findings suggest that inclusion of postural education programs in schools should be encouraged in order to promote health and prevent diseases related to the spine. PMID:26504322

Postural education and behavior among students in a city in southern Brazil: student postural education and behavior.

PubMed

Fonseca, Cíntia Detsch; Cardoso Dos Santos, Antônio; Candotti, Cláudia Tarragô; Noll, Matias; Luz, Anna Maria Hecker; Corso, Carlos Otávio

2015-09-01

[Purpose] The aim of the present study was to assess the knowledge of the spine and posture among adolescent female students and to determine if they had access to postural education in or outside school. [Subjects and Methods] This was an epidemiological survey of a representative sample of 495 female students aged 14 to 18 years attending a regular secondary school in São Leopoldo, RS, Brazil. Data were collected through a questionnaire. [Results] The results showed that 16.8% of teens did not know what a spine was, 8.3% had no knowledge of posture, and 61% reported receiving no posture education. Posture awareness was associated only with posture while using a computer, while having postural education class was not associated with any postural behavior. [Conclusion] The results showed that, although most students are familiar with the spine and posture, a sizable group is not, and over half had no postural education. These findings suggest that inclusion of postural education programs in schools should be encouraged in order to promote health and prevent diseases related to the spine.

Peripheral kynurenine-3-monooxygenase deficiency as a potential risk factor for metabolic syndrome in schizophrenia patients.

PubMed

Oxenkrug, Gregory; van der Hart, Marieke; Roeser, Julien; Summergrad, Paul

2017-01-01

Increased predisposition of schizophrenia patients (SP) to development of obesity and insulin resistance suggested common signaling pathway between metabolic syndrome (MetS) and schizophrenia. Deficiency of kynurenine-3-monooxygenase (KMO), enzyme catalyzing formation of 3-hydroxykynurenine (3-HK) from kynurenine (Kyn), a tryptophan (Trp) metabolite, might contribute to development of MetS as suggested by non-expression of KMO genes in human fat tissue and elevated serum concentrations of Kyn and its metabolites, kynurenic (KYNA) and anthranilic (ANA) acids, in diabetic patients and Zucker fatty rats (ZFR). Markers of KMO deficiency: decreased 3-HK and elevated Kyn, KYNA and ANA, were observed in brains and spinal fluids of SP, and in brains and serum of experimental animals with genetically- or pharmacologically-induced KMO deficiency. However, elevated concentrations of ANA and decreased 3-HK were reported in serum of SP without concurrent increase of Kyn and KYNA. Present study aimed to re-assess serum Kyn metabolites (HPLC-MS) in a sub-group of SP with elevated KYNA. We found increased Kyn concentrations (by 30%) and Kyn:Trp ratio (by 20%) in serum of SP with elevated KYNA concentrations (by 40%). Obtained results and our previous data suggest that peripheral KMO deficiency might be manifested by, at least, two different patterns: elevated ANA with decreased 3-HK; and elevated KYNA and KYN. The latter pattern was previously described in type 2 diabetes patients and might underline increased predisposition of SP to development of MetS. Assessment of peripheral KMO deficiency might identify SP predisposed to MetS. Attenuation of the consequences of peripheral KMO deficiency might be a new target for prevention/treatment of obesity and diabetes in SP.

Spinal postural training: Comparison of the postural and mobility effects of electrotherapy, exercise, biofeedback trainer in addition to postural education in university students.

PubMed

Çelenay, Şeyda Toprak; Kaya, Derya Özer; Özüdoğru, Anıl

2015-01-01

Spinal posture and mobility are significant for protecting spine. The aim was to compare effects of different postural training interventions on spinal posture and mobility. Ninety-six university students (ages: 18–25 years) were allocated into Electrical Stimulation (ES) (n = 24), Exercise (n = 24), Biofeedback Posture Trainer (Backtone) (n = 24), and Postural Education (n = 24, Controls) groups. All the groups got postural education. The interventions were carried out 3 days a week for 8 weeks. Spinal Mouse device (Idiag, Fehraltorf, Switzerland) was used to detect thoracic and lumbar curvatures and mobility (degrees) in standing and sitting positions. Paired Student’s t-test, one-way ANOVA, and pairwise post-hoc tests were used. ES decreased thoracic curvature, the exercise decreased thoracic and lumbar curvature and increased thoracic mobility in standing position between pre-post training (p < 0.05). Exercise and Backtone improved thoracic curvature in sitting (p <0.05). In Exercise Group, thoracic curvature decreased compared to Backtone and Education Groups, and thoracic mobility increased compared to all groups (p < 0.05). The exercise was effective and superior in improving thoracic and lumbar curves, and mobility among university students. ES decreased thoracic curve. Biofeedback posture trainer improved sitting posture. A prospective randomized controlled trial, Level 1.

Leg orientation as a clinical sign for pusher syndrome

PubMed Central

Johannsen, Leif; Broetz, Doris; Karnath, Hans-Otto

2006-01-01

Background Effective control of (upright) body posture requires a proper representation of body orientation. Stroke patients with pusher syndrome were shown to suffer from severely disturbed perception of own body orientation. They experience their body as oriented 'upright' when actually tilted by nearly 20° to the ipsilesional side. Thus, it can be expected that postural control mechanisms are impaired accordingly in these patients. Our aim was to investigate pusher patients' spontaneous postural responses of the non-paretic leg and of the head during passive body tilt. Methods A sideways tilting motion was applied to the trunk of the subject in the roll plane. Stroke patients with pusher syndrome were compared to stroke patients not showing pushing behaviour, patients with acute unilateral vestibular loss, and non brain damaged subjects. Results Compared to all groups without pushing behaviour, the non-paretic leg of the pusher patients showed a constant ipsiversive tilt across the whole tilt range for an amount which was observed in the non-pusher subjects when they were tilted for about 15° into the ipsiversive direction. Conclusion The observation that patients with acute unilateral vestibular loss showed no alterations of leg posture indicates that disturbed vestibular afferences alone are not responsible for the disordered leg responses seen in pusher patients. Our results may suggest that in pusher patients a representation of body orientation is disturbed that drives both conscious perception of body orientation and spontaneous postural adjustment of the non-paretic leg in the roll plane. The investigation of the pusher patients' leg-to-trunk orientation thus could serve as an additional bedside tool to detect pusher syndrome in acute stroke patients. PMID:16928280

Northern infant syndrome: a deficiency state?

PubMed

Godel, J C; Hart, A G

1984-08-01

A syndrome is described that affected 16 Indian and Inuit infants roughly 3 months old, most of whom were born in settlements in the Canadian Arctic. The infants presented with a clinical picture that included hepatitis, hemolytic anemia, rickets and respiratory distress, a combination that resembled a syndrome first described in malnourished infants at the turn of the century by von Jaksch and Luzet. The clinical course was self-limited, and all the infants survived without sequelae. The cause of the syndrome was not determined; no infectious agents were discovered. However, low levels of vitamins A, C, D and E were found in a few infants in whom assays were done. The implications of these findings and their relation to the possible cause of this "northern infant syndrome" are discussed.

Orthostatic intolerance and postural tachycardia syndrome as suspected adverse effects of vaccination against human papilloma virus.

PubMed

Brinth, Louise S; Pors, Kirsten; Theibel, Ann C; Mehlsen, Jesper

2015-05-21

Infections with human papilloma virus (HPV) can result in cervical, oropharyngeal, anal, and penile cancer and vaccination programs have been launched in many countries as a preventive measure. We report the characteristics of a number of patients with a syndrome of orthostatic intolerance, headache, fatigue, cognitive dysfunction, and neuropathic pain starting in close relation to HPV vaccination. Patients were referred for orthostatic intolerance following HPV vaccination. Symptoms of autonomic dysfunction were quantified by standardised questionnaire. The diagnosis of postural orthostatic tachycardia syndrome (POTS) rested on finding a sustained heart rate increment of >30 min(-1) (>40 min(-1) in adolescents) or to levels >120 min(-1) during orthostatic challenge. 35 women aged 23.3 ± 7.1 years participated. Twenty-five had a high level of physical activity before vaccination and irregular periods were reported by all patients not on treatment with oral contraception. Serum bilirubin was below the lower detection limit in 17 patients. Twenty-one of the referred patients fulfilled the criteria for a diagnosis of POTS (60%, 95%CI 43-77%). All patients had orthostatic intolerance, 94% nausea, 82% chronic headache, 82% fatigue, 77% cognitive dysfunction, 72% segmental dystonia, 68% neuropathic pain. In a population referred for symptoms of orthostatic intolerance and other symptoms consistent with autonomic dysfunction that began in close temporal association with a quadrivalent HPV vaccination, we identified a 60% prevalence of POTS. Further work is urgently needed to elucidate the potential for a causal link between the vaccine and circulatory abnormalities and to establish targeted treatment options for the affected patients. Copyright © 2015 Elsevier Ltd. All rights reserved.

The effect of vision on postural strategies in Prader-Willi patients.

PubMed

Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Priano, Lorenzo; Capodaglio, Paolo

2011-01-01

The aim of this study was to quantify the role of visual contribution in patients with Prader-Willi syndrome (PWS) on balance maintenance using a force platform. We enrolled 14 individuals with PWS free from conditions associated with impaired balance, 44 obese (OG) and 20 healthy controls (CG). Postural sway was measured for 60s while standing on a force platform (Kistler, CH; acquisition frequency: 500 Hz) integrated with a video system. Patients maintained an upright standing position with Open Eyes (OE) and then with Closed Eyes (CE). The ratio between the value of the parameter under OE and CE conditions was measured. Under OE condition PWS and OG were characterized by higher postural instability than CG, with the PWS group showing poorer balance capacity than OG. The Romberg ratio showed that while OG and CG had lower balance without vision, PWS maintained the same performance changing from OE to CE. The integration of different sensory inputs appears similar in OG and CG with higher postural stability under OE than CE. Balance in PWS is not influenced by the elimination of visual input. Copyright © 2011 Elsevier Ltd. All rights reserved.

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

PubMed

Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

2016-01-01

Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is <7 in 1000 children with ASD. The autism and control groups did not vary in terms of creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

PubMed

Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

2015-11-01

Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P < .002). All patients with colorectal carcinomas demonstrating isolated loss of MSH6 expression had Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

Occlusal Characteristics of Individuals with Growth Hormone Deficiency, Idiopathic Short Stature, and Russell-Silver Syndrome.

PubMed

Hodge, Natalia; Evans, Carla A; Simmons, Kirt E; Fadavi, Shahrbanoo; Viana, Grace

2015-01-01

The purpose of this study was to assess the occlusal characteristics of individuals with growth hormone deficiency (GHD), idiopathic short stature (ISS), and Russell-Silver syndrome (RSS), and compare them to the means of a normal population. Data about the stage of dentition, diastema, maxillary transverse deficiency, overjet, overbite, molar classification, and maxillary and mandibular crowding were obtained from orthodontic screening notes and standardized clinical exams of children with growth disorders seen at screening events. The prevalence of these occlusal characteristics was calculated and compared to the pooled mean of a normal population as determined by the National Health and Nutrition Examination Survey studies. Twenty RSS subjects and 16 subjects with GHD or ISS were studied. The RSS cohort presented statistically significant greater mean overbite as well as mandibular and maxillary crowding compared to the general population. Descriptive statistics were performed for the GHD and ISS group. Occlusal abnormalities are prevalent in children with growth disorders.

Should Ballet Dancers Vary Postures and Underfoot Surfaces When Practicing Postural Balance?

PubMed

Steinberg, Nili; Waddington, Gordon; Adams, Roger; Karin, Janet; Tirosh, Oren

2018-01-01

Postural balance (PB) is an important component skill for professional dancers. However, the effects of different types of postures and different underfoot surfaces on PB have not adequately been addressed. The main aim of this study was to investigate the effect of different conditions of footwear, surfaces, and standing positions on static and dynamic PB ability of young ballet dancers. A total of 36 male and female young professional ballet dancers (aged 14-19 years) completed static and dynamic balance testing, measured by head and lumbar accelerometers, while standing on one leg in the turnout position, under six different conditions: (1) "relaxed" posture; (2) "ballet" posture; (3) barefoot; (4) ballet shoes with textured insoles; (5) barefoot on a textured mat; and (6) barefoot on a spiky mat. A condition effect was found for static and dynamic PB. Static PB was reduced when dancers stood in the ballet posture compared with standing in the relaxed posture and when standing on a textured mat and on a spiky mat (p < .05), and static PB in the relaxed posture was significantly better than PB in all the other five conditions tested. Dynamic PB was significantly better while standing in ballet shoes with textured insoles and when standing on a spiky mat compared with all other conditions (p < .05). The practical implications derived from this study are that both male and female dancers should try to be relaxed in their postural muscles when practicing a ballet aligned position, including dance practice on different types of floors and on different types of textured/spiky materials may result in skill transfer to practice on normal floor surfaces, and both static and dynamic PB exercises should be assessed and generalized into practical dance routines.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

PubMed

Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

Color Vision Deficiency and Functional Disorders Among Israeli Male Adolescents Between 2007 and 2013.

PubMed

Berger, Assaf; Findler, Michael; Maymon, Dror; Korach, Tzfanya; Yativ, Oshrat Fono; Gronovich, Yoav; Hassidim, Ayal

2016-09-01

Color vision deficiency has been associated with educational difficulties among male children, as well as attention-deficit hyperactivity disorder (ADHD). We examined the association of color vision deficiency with functional conditions, including ADHD, irritable bowel syndrome, enuresis and somatoform disorders, in a large population of male adolescents. We included all Israeli male adolescents that underwent medical and cognitive examinations during conscription between the years 2007 and 2013. The prevalence of ADHD, irritable bowel syndrome, enuresis, and somatoform disorders among color vision deficiency patients was compared to a control group. The study included 305 964 males aging 17 ± 0.6, of which 7584 (2.5%) had color vision deficiency. Using a multivariable analysis, the probability for irritable bowel syndrome, enuresis, and somatoform disorders among color vision deficiency patients was increased by 1.41, 1.94, and 3.87, respectively (P < .05). No significant association was found between ADHD and color vision deficiency. Color vision abnormalities are associated with functional disorders in male adolescents, including irritable bowel syndrome, enuresis, and somatoform disorders. © The Author(s) 2016.

Inadequate interaction between open- and closed-loop postural control in phobic postural vertigo.

PubMed

Wuehr, M; Pradhan, C; Novozhilov, S; Krafczyk, S; Brandt, T; Jahn, K; Schniepp, R

2013-05-01

Phobic postural vertigo (PPV) is characterized by a subjective dizziness and postural imbalance. Changes in postural control strategy may cause the disturbed postural performance in PPV. A better understanding of the mechanisms behind this change in strategy is required to improve the diagnostic tools and therapeutic options for this prevalent disorder. Here we apply stabilogram diffusion analysis (SDA) to examine the characteristics and modes of interaction of open- and closed-loop processes that make up the postural control scheme in PPV. Twenty patients with PPV and 20 age-matched healthy controls were recorded on a stabilometer platform with eyes open and with eyes closed. Spatio-temporal changes of the center of pressure (CoP) displacement were analyzed by means of SDA and complementary CoP amplitude measures. (1) Open-loop control mechanisms in PPV were disturbed because of a higher diffusion activity (p < 0.001). (2) The interaction of open- and closed-loop processes was altered in that the sensory feedback threshold of the system was lowered (p = 0.010). These two changes were comparable to those observed in healthy subjects during more demanding balance conditions such as standing with eyes closed. These data indicate that subjective imbalance in PPV is associated with characteristic changes in the coordination of open- and closed-loop mechanisms of postural control. Patients with PPV use sensory feedback inadequately during undisturbed stance, and this impairs postural performance. These changes are compatible with higher levels of anti-gravity muscle activity and co-contraction during the conscious concentration on control of postural stability.

Clinical endocannabinoid deficiency (CECD) revisited: can this concept explain the therapeutic benefits of cannabis in migraine, fibromyalgia, irritable bowel syndrome and other treatment-resistant conditions?

PubMed

Smith, Steele Clarke; Wagner, Mark S

2014-01-01

Ethan B. Russo's paper of December 1, 2003 explored the concept of a clinical endocannabinoid deficiency (CECD) underlying the pathophysiology of migraine, fibromyalgia, irritable bowel syndrome and other functional conditions alleviated by clinical cannabis. Available literature was reviewed, including searches via the National Library of medicine database and other sources. A review of the literature indicates that significant progress has been made since Dr. Ethan B. Russo's landmark paper, just ten years ago (February 2, 2004). Investigation at that time suggested that cannabinoids can block spinal, peripheral and gastrointestional mechanisms that promote pain in headache, fibromyalgia, irritable bowel syndrome and muscle spasm. Subsequent research has confirmed that underlying endocannabinoid deficiencies indeed play a role in migraine, fibromyalgia, irritable bowel syndrome and a growing list of other medical conditions. Clinical experience is bearing this out. Further research and especially, clinical trials will further demonstrate the usefulness of medical cannabis. As legal barriers fall and scientific bias fades this will become more apparent.

[Risks of awkward posture].

PubMed

Bazzini, G; Capodaglio, E; Panigazzi, M; Prestifilippo, E; Vercesi, C

2010-01-01

For posture we mean the position of the body in the space and the relationship with its segments. The correct posture is determined by neurophysiological, biomechanical, emotional, psychological and relation factors, enabling us to perform daily and working activities with the lowest energy expenditure. When possible we suggest during posture variation, a preventive measure where there are prolonged fixed activities.

Postural orthostatic tachycardia is not a useful diagnostic marker for chronic fatigue syndrome.

PubMed

Roerink, M E; Lenders, J W M; Schmits, I C; Pistorius, A M A; Smit, J W; Knoop, H; van der Meer, J W M

2017-02-01

Postural orthostatic tachycardia syndrome (POTS) is considered a diagnostic marker for chronic fatigue syndrome (CFS). The aims of this study were to (i) compare POTS prevalence in a CFS cohort with fatigued patients not meeting CFS criteria, and (ii) assess activity, impairment and response to cognitive behavioural therapy (CBT) in CFS patients with POTS (POTS-CFS) and without POTS (non-POTS-CFS). Prospective cohort study at the Radboud University Medical Centre in the Netherlands. Between June 2013 and December 2014, 863 consecutive patients with persistent fatigue were screened. Patients underwent an active standing test, filled out questionnaires and wore an activity-sensing device for a period of 12 days. A total of 419 patients with CFS and 341 non-CFS fatigued patients were included in the study. POTS prevalence in adult patients with CFS was 5.7% vs. 6.9% in non-CFS adults (P = 0.54). In adolescents, prevalence rates were 18.2% and 17.4%, respectively (P = 0.93). Adult patients with POTS-CFS were younger (30 ± 12 vs. 40 ± 13 years, P = 0.001) and had a higher supine heart rate (71 ± 11 vs. 65 ± 9 beats per min, P = 0.009) compared with non-POTS-CFS patients. Severity and activity patterns did not differ between groups. In patients with CFS, criteria for Systemic Exertion Intolerance Disease (SEID) were met in 76% of adults and 67% of adolescents. In these patients with CFS fulfilling the SEID criteria, the prevalence of POTS was not different from that in the overall CFS population. POTS-CFS adolescents had less clinically significant improvement after CBT than non-POTS-CFS adolescents (58% vs. 88%, P = 0.017). In adults with CFS, the prevalence of POTS was low, was not different from the rate in non-CFS fatigued patients and was not related to disease severity or treatment outcome. In POTS-CFS adolescents, CBT was less successful than in non-POTS-CFS patients. The evaluation of POTS appears to be of limited value for the diagnosis of CFS. © 2016 The

Adaptive changes in anticipatory postural adjustments with novel and familiar postural supports.

PubMed

Hall, Leanne M; Brauer, Sandra; Horak, Fay; Hodges, Paul W

2010-02-01

Anticipatory postural adjustments (APAs) serve to stabilize posture prior to initiation of voluntary movement. This study examined the effects of changes in postural support on APAs using novel and familiar support paradigms. We also investigated whether postural strategies were refined with practice and how the CNS responded when multiple supports were available. Twelve healthy subjects stood on dual force platforms and performed 20 randomized left and right rapid leg-lift tasks in response to a visual cue under four conditions: unsupported, bilateral handgrip, bite plate, and a combined handgrip and bite plate condition. Vertical ground reaction forces, electromyography of limb, trunk and jaw muscles, and forces exerted on the support apparatus were recorded. Shift in center-of-pressure amplitude and duration were reduced with increased support. Muscles were recruited in advance of the focal movement when able to contribute to stability, and activity was modulated based on the amount of support available. The CNS adapted anticipatory postural strategies immediately with changes in condition regardless of familiarity with the support; however, adaptation was only complete at the first repetition in conditions that involved familiar support strategies. Tasks that involved a novel bite strategy continued to adapt with practice. In the multiple support condition, both hand and bite strategies were immediately incorporated; however, the contribution of each was not identical to conditions where supports were provided individually. This study emphasizes the flexibility of the CNS to organize postural strategies to meet the demands of postural stability in both familiar and novel situations.

[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].

PubMed

Zhu, Hongmin; Bao, Xinhua; Zhang, Yao

2015-08-01

To investigate the clinical features and genetic characteristics of patients with 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) gene mutations. The clinical data of a patient with novel HIBCH mutations were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center for Biotechnology Information and PubMed (up to December 2014) by using search terms" HIBCH", "3-hydroxy-isobutyryl-CoA hydrolase" or "beta-Hydroxyisobutyryl CoA Deacylase Deficiency". The clinical features, neuroimage and treatment of the patients with HIBCH gene mutations were studied. The patient was a girl who was born at term after an uneventful pregnancy to non-consanguineous healthy parents, she was hospitalized at 5 years and 5 months of age because of development delay for 5 years and 5 months and abnormal posture on the left of body for more than 10 days. The family history was unremarkable. Her psychomotor development was significantly delayed. Three times brain MRI between 2. 5 years and 5 years of age revealed bilateral symmetrical lesions in basal ganglia. At the age of 5 years and 5 months, she presented with acute encephalopathy and severe extrapyramidal symptoms preceded by fever. At that time, her brain MRI revealed aggravated lesions in bilateral basal ganglia, new lesions in the midbrain cerebral peduncle and pons, and cerebellar atrophy. The results of biochemical tests were normal. A novel compound heterozygous mutation of HIBCH gene, c. 1027C > G, p. H343D and c. 79-1G > T, splicing, were found in the parent. Further study showed that c. 1027 C > G mutation was inherited from her father and c. 79-1 G > T from her mother. Her symptoms were mitigated after "cocktail" therapy and symptomatic treatment. Repeated brain MRI revealed that the lesion in basal ganglia got better, the lesions in brain stem disappeared. Literature relevant to HIBCH published all around the world was reviewed, no Chinese

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

PubMed

Makedonski, Kirill; Abuhatzira, Liron; Kaufman, Yotam; Razin, Aharon; Shemer, Ruth

2005-04-15

Rett syndrome (RS) is a severe and progressive neurodevelopmental disorder caused by heterozygous mutations in the X-linked methyl CpG binding protein 2 (MeCP2) gene. MeCP2 is a nuclear protein that binds specifically to methylated DNA and functions as a general transcription repressor in the context of chromatin remodeling complexes. RS shares clinical features with those of Angelman syndrome (AS), an imprinting neurodevelopmental disorder. In AS patients, the maternally expressed copy of UBE3A that codes for the ubiquitin protein ligase 3A (E6-AP) is repressed. The similar phenotype of these two syndromes led us to hypothesize that part of the RS phenotype is due to MeCP2-associated silencing of UBE3A. Indeed, UBE3A mRNA and protein are shown here to be significantly reduced in human and mouse MECP2 deficient brains. This reduced UBE3A level was associated with biallelic production of the UBE3A antisense RNA. In addition, MeCP2 deficiency resulted in elevated histone H3 acetylation and H3(K4) methylation and reduced H3(K9) methylation at the PWS/AS imprinting center, with no effect on DNA methylation or SNRPN expression. We conclude, therefore, that MeCP2 deficiency causes epigenetic aberrations at the PWS imprinting center. These changes in histone modifications result in loss of imprinting of the UBE3A antisense gene in the brain, increase in UBE3A antisense RNA level and, consequently reduction in UBE3A production.

Birthing postures and birth canal lacerations.

PubMed

Suzuki, Shunji

2017-05-01

This study was performed to assess the differences in the birth canal lacerations following the lateral and fours posture deliveries compared with those following the supine posture deliveries. We examined the birth canal lacerations of our "low risk" pregnant women under the midwife-led delivery care at Japanese Red Cross Katsushika Maternity Hospital between April 2006 and March 2015. There were 3826, 1754 and 719 women who delivered with supine, lateral and fours postures. The rate of no laceration in the women who delivered with lateral posture was significant lower than that in the women who delivered with supine posture (OR 0.630, 95% CI 0.56-0.71, p < 0.01); however, the incidence of perineal laceration in the women who delivered with lateral posture was significant lower than that in the women who delivered with supine posture (OR 0.856, 95% CI 0.76-0.90, p < 0.01). The incidence of perineal laceration of third- or fourth-degree in the women who delivered with fours posture was significant higher than that in the women who delivered with supine posture (OR 2.28, 95% CI 1.2-4.2, p < 0.01). The current results may be to help for self-determination of birthing postures in prenatal women.

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.

PubMed

Fryburg, J S; Pelegano, J P; Bennett, M J; Bebin, E M

1994-08-01

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.

Acute Effects of Posture Shirts on Rounded-Shoulder and Forward-Head Posture in College Students.

PubMed

Manor, John; Hibberd, Elizabeth; Petschauer, Meredith; Myers, Joseph

2016-12-01

Rounded-shoulder and forward-head posture can be contributing factors to shoulder pain. Corrective techniques such as manual therapy and exercise have been shown to improve these altered postures, but there is little evidence that corrective garments such as posture shirts can alter posture. To determine the acute effects of corrective postureshirt use on rounded-shoulder and forward-head posture in asymptomatic college students. Repeated-measures intervention study with counterbalanced conditions. Research laboratory. 24 members of the general student body of a university, 18-25 y old, with a forward shoulder angle (FSA) >52° and no history of upper-extremity surgery, scoliosis, active shoulder pain, or shoulder pain in the previous 3 mo that restricted participation for 3 consecutive days. Photographic posture assessment under a control condition, under a sham or treatment condition (counterbalanced), under another control condition, and treatment or sham. FSA and forward head angle (FHA) calculated from a lateral photograph. FSA decreased relative to the control condition while participants wore the sham shirt (P = .029) but not the corrective posture shirt (P = 1.00). FHA was unchanged between groups (P = .371). Application of a corrective posture shirt did not acutely alter FSA or FHA, while application of a sham shirt may decrease FSA at rest.

Neural basis of postural focus effect on concurrent postural and motor tasks: phase-locked electroencephalogram responses.

PubMed

Huang, Cheng-Ya; Zhao, Chen-Guang; Hwang, Ing-Shiou

2014-11-01

Dual-task performance is strongly affected by the direction of attentional focus. This study investigated neural control of a postural-suprapostural procedure when postural focus strategy varied. Twelve adults concurrently conducted force-matching and maintained stabilometer stance with visual feedback on ankle movement (visual internal focus, VIF) and on stabilometer movement (visual external focus, VEF). Force-matching error, dynamics of ankle and stabilometer movements, and event-related potentials (ERPs) were registered. Postural control with VEF caused superior force-matching performance, more complex ankle movement, and stronger kinematic coupling between the ankle and stabilometer movements than postural control with VIF. The postural focus strategy also altered ERP temporal-spatial patterns. Postural control with VEF resulted in later N1 with less negativity around the bilateral fronto-central and contralateral sensorimotor areas, earlier P2 deflection with more positivity around the bilateral fronto-central and ipsilateral temporal areas, and late movement-related potential commencing in the left frontal-central area, as compared with postural control with VIF. The time-frequency distribution of the ERP principal component revealed phase-locked neural oscillations in the delta (1-4Hz), theta (4-7Hz), and beta (13-35Hz) rhythms. The delta and theta rhythms were more pronounced prior to the timing of P2 positive deflection, and beta rebound was greater after the completion of force-matching in VEF condition than VIF condition. This study is the first to reveal the neural correlation of postural focusing effect on a postural-suprapostural task. Postural control with VEF takes advantage of efficient task-switching to facilitate autonomous postural response, in agreement with the "constrained-action" hypothesis. Copyright © 2014 Elsevier B.V. All rights reserved.

[Refeeding syndrome: practical issues].

PubMed

Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

2015-10-14

The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

Neurological Disease associated with Folate Deficiency

PubMed Central

Reynolds, E. H.; Rothfeld, P.; Pincus, Jonathen H.

1973-01-01

In a general medical hospital population the neurological status of 24 patients with severe folate deficiency was compared with that of a control group of 21 patients with normal serum folate. A significant increase of organic brain syndrome and pyramidal tract damage was found in the folate-deficient group. These findings were independent of the degree of anaemia or the presence of alcoholism. These data are consistent with the view that severe folate deficiency may cause neurological deficits. PMID:4703098

Molecular role of dopamine in anhedonia linked to reward deficiency syndrome (RDS) and anti- reward systems.

PubMed

Gold, Mark S; Blum, Kenneth; Febo, Marcelo; Baron, David; Modestino, Edward Justin; Elman, Igor; Badgaiyan, Rajendra D

2018-03-01

Anhedonia is a condition that leads to the loss of feelings pleasure in response to natural reinforcers like food, sex, exercise, and social activities. This disorder occurs in addiction, and an array of related neuropsychiatric syndromes, including schizophrenia, depression, and Post Traumatic Stress Disorder (PTSD). Anhedonia may by due to derangements in mesolimbic dopaminergic pathways and their terminal fields (e.g., striatum, amygdala, and prefrontal cortex) that persist long after the traces of the causative drugs are eliminated (pharmacokinetically). Here we postulate that anhedonia is not a distinct entity but is rather an epiphenomenon of hypodopaminergic states and traits arising from the interaction of genetic traits and epigenetic neurobiological alterations in response to environmental influences. Moreover, dopaminergic activity is rather complex, and so it may give rise to differential pathophysiological processes such as incentive sensitization, aberrant learning and stress-like "anti-reward" phenomena. These processes may have additive, synergistic or antagonistic interactions with the concurrent reward deficiency states leading in some instances to more severe and long-lasting symptoms. Operant understanding of the neurogenetic antecedents to reward deficiency syndrome (RDS) and the elucidation of reward gene polymorphisms may provide a map for accessing an individual's genetic risk for developing Anhedonia. Prevention techniques that can restore homeostatic balance via physiological activation of dopaminergic receptors (D2/D3) may be instrumental for targeting not only anhedonia per se but also drug craving and relapse.

Pathological and behavioral manifestations of the “Cayuga syndrome,” a thiamine deficiency in larval landlocked Atlantic salmon

USGS Publications Warehouse

Fisher, Jeffrey P.; Spitsbergen, Jan M.; Iamonte, Tina; Little, Edward E.; DeLonay, Aaron

1995-01-01

The “Cayuga syndrome” is a maternally transmitted, naturally occurring thiamine deficiency that causes 100% mortality of larval landlocked Atlantic salmon Salmo salar in several of New York's Finger Lakes, Results of multiyear studies to qualify and quantify the neurobehavioral and gross pathological signs of this condition are described, Affected sac fry became weak and ataxic and responded atypically to stimuli 1–2 weeks before death. Quantitative assays of stimulus-provoked swimming revealed a significant neuropathy whereby the sac fry exhibited abnormal thigmotactic and phototactic behaviors. Gross lesions observed in Cayuga sac fry included yolk-sac opacities, subcutaneous edema, vitelline hemorrhage or congestion, pericardial edema, retrobulbar edema, branchial congestion, foreshortened maxillae, hydrocephalus, and occasional caudal fin deformities, Lesion frequency in progeny differed significantly between dam source. Yolk conversion efficiency was decreased at least 1 week before death, suggesting that the bioenergetics of the fish was compromised and thereby supporting the thiamine residue and treatment data reported elsewhere, Comparisons with coagulated-yolk, blue-sac and swim-up syndromes are presented, The pathological signs of the Cayuga syndrome represent a unique departure from the lesions induced by toxicants or pathogens in other piscine models, and for the first time profile the profound effects of thiamine deficiency on cardiovascular and neurological systems of larval fish.

Are automatic postural responses in patients with Parkinson's disease abnormal due to their stooped posture?

PubMed

Bloem, B R; Beckley, D J; van Dijk, J G

1999-02-01

Abnormal automatic postural responses are thought to contribute to balance impairment in Parkinson's disease. However, because postural responses are modifiable by stance, we have speculated that some postural abnormalities in patients with Parkinson's disease are secondary to their stooped stance. We have studied this assumption by assessing automatic postural responses in 30 healthy subjects who were instructed either to stand upright or to assume a typical parkinsonian posture. During both conditions, subjects received 20 serial 4 degrees 'toe-up' rotational perturbations from a supporting forceplate. We recorded short-latency (SL) and medium-latency (ML) responses from stretched gastrocnemius muscles and long-latency (LL) responses from shortened tibialis anterior muscles. We also assessed changes in the center of foot pressure (CFP) and the center of gravity (COG). The results were qualitatively compared to a previously described group of patients with Parkinson's disease who, under these circumstances, typically have large ML responses, small LL responses and insufficient voluntary postural corrections, accompanied by a slow rate of backward CFP displacement and an increased posterior COG displacement. The stooped posture resulted in unloading of medial gastrocnemius muscles and loading of tibialis anterior muscles. Onset latencies of stretch responses in gastrocnemius muscles were delayed in stooped subjects, but the onset of LL responses was markedly reduced. Amplitudes of both ML and LL responses were reduced in stooped subjects. Prestimulus COG and, to a lesser extent, CFP were shifted forwards in stooped subjects. Posterior COG displacement and the rate of backward CFP displacement were diminished in stooped subjects. Voluntary postural corrections were unchanged while standing stooped. These results indicate that some postural abnormalities of patients with Parkinson's disease (most notably the reduced LL responses) can be reproduced in healthy subjects

Velocity dependence of vestibular information for postural control on tilting surfaces

PubMed Central

Kluzik, JoAnn; Hlavacka, Frantisek

2016-01-01

Vestibular information is known to be important for postural stability on tilting surfaces, but the relative importance of vestibular information across a wide range of surface tilt velocities is less clear. We compared how tilt velocity influences postural orientation and stability in nine subjects with bilateral vestibular loss and nine age-matched, control subjects. Subjects stood on a force platform that tilted 6 deg, toes-up at eight velocities (0.25 to 32 deg/s), with and without vision. Results showed that visual information effectively compensated for lack of vestibular information at all tilt velocities. However, with eyes closed, subjects with vestibular loss were most unstable within a critical tilt velocity range of 2 to 8 deg/s. Subjects with vestibular deficiency lost their balance in more than 90% of trials during the 4 deg/s condition, but never fell during slower tilts (0.25–1 deg/s) and fell only very rarely during faster tilts (16–32 deg/s). At the critical velocity range in which falls occurred, the body center of mass stayed aligned with respect to the surface, onset of ankle dorsiflexion was delayed, and there was delayed or absent gastrocnemius inhibition, suggesting that subjects were attempting to actively align their upper bodies with respect to the moving surface instead of to gravity. Vestibular information may be critical for stability at velocities of 2 to 8 deg/s because postural sway above 2 deg/s may be too fast to elicit stabilizing responses through the graviceptive somatosensory system, and postural sway below 8 deg/s may be too slow for somatosensory-triggered responses or passive stabilization from trunk inertia. PMID:27486101

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

PubMed

Meazza, Cristina; Lausch, Ekkehard; Pagani, Sara; Bozzola, Elena; Calcaterra, Valeria; Superti-Furga, Andrea; Silengo, Margherita; Bozzola, Mauro

2013-03-21

3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low birth weight (2400 g=-3.36 standard deviation score, SDS) and length (40.0 cm =-6.53 SDS). At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax and long slender bones. Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of 3-M syndrome was made; this was also confirmed by the finding of a homozygous deletion in exon 18 of the CUL7 gene, which has not been previously described.The patient also exhibited severe GHD (GH <5 ng/ml) and from the age of 18 months was treated with rhGH. Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (-6.42 SDS).

Scapular Bracing and Alteration of Posture and Muscle Activity in Overhead Athletes With Poor Posture

PubMed Central

Cole, Ashley K; McGrath, Melanie L; Harrington, Shana E; Padua, Darin A; Rucinski, Terri J; Prentice, William E

2013-01-01

Context Overhead athletes commonly have poor posture. Commercial braces are used to improve posture and function, but few researchers have examined the effects of shoulder or scapular bracing on posture and scapular muscle activity. Objective To examine whether a scapular stabilization brace acutely alters posture and scapular muscle activity in healthy overhead athletes with forward-head, rounded-shoulder posture (FHRSP). Design Randomized controlled clinical trial. Setting Applied biomechanics laboratory. Patients or Other Participants Thirty-eight healthy overhead athletes with FHRSP. Intervention(s) Participants were assigned randomly to 2 groups: compression shirt with no strap tension (S) and compression shirt with the straps fully tensioned (S + T). Posture was measured using lateral-view photography with retroreflective markers. Electromyography (EMG) of the upper trapezius (UT), middle trapezius (MT), lower trapezius (LT), and serratus anterior (SA) in the dominant upper extremity was measured during 4 exercises (scapular punches, W's, Y's, T's) and 2 glenohumeral motions (forward flexion, shoulder extension). Posture and exercise EMG measurements were taken with and without the brace applied. Main Outcome Measure(s) Head and shoulder angles were measured from lateral-view digital photographs. Normalized surface EMG was used to assess mean muscle activation of the UT, MT, LT, and SA. Results Application of the brace decreased forward shoulder angle in the S + T condition. Brace application also caused a small increase in LT EMG during forward flexion and Y's and a small decrease in UT and MT EMG during shoulder extension. Brace application in the S + T group decreased UT EMG during W's, whereas UT EMG increased during W's in the S group. Conclusions Application of the scapular brace improved shoulder posture and scapular muscle activity, but EMG changes were highly variable. Use of a scapular brace might improve shoulder posture and muscle activity in

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

PubMed

Bodo, Sahra; Colas, Chrystelle; Buhard, Olivier; Collura, Ada; Tinat, Julie; Lavoine, Noémie; Guilloux, Agathe; Chalastanis, Alexandra; Lafitte, Philippe; Coulet, Florence; Buisine, Marie-Pierre; Ilencikova, Denisa; Ruiz-Ponte, Clara; Kinzel, Miriam; Grandjouan, Sophie; Brems, Hilde; Lejeune, Sophie; Blanché, Hélène; Wang, Qing; Caron, Olivier; Cabaret, Odile; Svrcek, Magali; Vidaud, Dominique; Parfait, Béatrice; Verloes, Alain; Knappe, Ulrich J; Soubrier, Florent; Mortemousque, Isabelle; Leis, Alexander; Auclair-Perrossier, Jessie; Frébourg, Thierry; Fléjou, Jean-François; Entz-Werle, Natacha; Leclerc, Julie; Malka, David; Cohen-Haguenauer, Odile; Goldberg, Yael; Gerdes, Anne-Marie; Fedhila, Faten; Mathieu-Dramard, Michèle; Hamelin, Richard; Wafaa, Badre; Gauthier-Villars, Marion; Bourdeaut, Franck; Sheridan, Eamonn; Vasen, Hans; Brugières, Laurence; Wimmer, Katharina; Muleris, Martine; Duval, Alex

2015-10-01

Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD. In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features. The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

Effects of Wrist Posture and Fingertip Force on Median Nerve Blood Flow Velocity

PubMed Central

Wilson, Katherine E.; Tat, Jimmy

2017-01-01

Purpose. The purpose of this study was to assess nerve hypervascularization using high resolution ultrasonography to determine the effects of wrist posture and fingertip force on median nerve blood flow at the wrist in healthy participants and those experiencing carpal tunnel syndrome (CTS) symptoms. Methods. The median nerves of nine healthy participants and nine participants experiencing symptoms of CTS were evaluated using optimized ultrasonography in five wrist postures with and without a middle digit fingertip press (0, 6 N). Results. Both wrist posture and fingertip force had significant main effects on mean peak blood flow velocity. Blood flow velocity with a neutral wrist (2.87 cm/s) was significantly lower than flexed 30° (3.37 cm/s), flexed 15° (3.27 cm/s), and extended 30° (3.29 cm/s). Similarly, median nerve blood flow velocity was lower without force (2.81 cm/s) than with force (3.56 cm/s). A significant difference was not found between groups. Discussion. Vascular changes associated with CTS may be acutely induced by nonneutral wrist postures and fingertip force. This study represents an early evaluation of intraneural blood flow as a measure of nerve hypervascularization in response to occupational risk factors and advances our understanding of the vascular phenomena associated with peripheral nerve compression. PMID:28286771

Postural Tachycardia Syndrome and Vasovagal Syncope: A Hidden Case of Obstructive Cardiomyopathy without Severe Septal Hypertrophy

PubMed Central

Ho, Natalie; Shields, Robert W.; Cremer, Paul; Rodriguez, L. Leonardo

2018-01-01

A 36-year-old female with symptoms of orthostatic intolerance and syncope was diagnosed with vasovagal syncope on a tilt table test and with postural tachycardia syndrome (POTS) after a repeat tilt table test. However, an echocardiogram at our institution revealed obstructive cardiomyopathy without severe septal hypertrophy, with a striking increase in left ventricular outflow tract gradient from 7 mmHg at rest to 75 mmHg during Valsalva, with a septal thickness of only 1.3 cm. Cardiac MRI showed an apically displaced multiheaded posteromedial papillary muscle with suggestion of aberrant chordal attachments to the anterior mitral leaflet contributing to systolic anterior motion of the mitral valve. She underwent surgery with reorientation of the posterior medial papillary muscle head, resection of the tethering secondary chordae to the A1 segment of the mitral valve, chordal shortening and tacking of the chordae to the A1 and A2 segments of the mitral valve, and gentle septal myectomy. After surgery, she had significant improvement in her prior symptoms. To our knowledge, this is the first reported case of obstructive cardiomyopathy without severe septal hypertrophy with abnormalities in papillary muscle and chordal attachment, in a patient diagnosed with vasovagal syncope and POTS. PMID:29850268

Postural Tachycardia Syndrome and Vasovagal Syncope: A Hidden Case of Obstructive Cardiomyopathy without Severe Septal Hypertrophy.

PubMed

Mayuga, Kenneth A; Ho, Natalie; Shields, Robert W; Cremer, Paul; Rodriguez, L Leonardo

2018-01-01

A 36-year-old female with symptoms of orthostatic intolerance and syncope was diagnosed with vasovagal syncope on a tilt table test and with postural tachycardia syndrome (POTS) after a repeat tilt table test. However, an echocardiogram at our institution revealed obstructive cardiomyopathy without severe septal hypertrophy, with a striking increase in left ventricular outflow tract gradient from 7 mmHg at rest to 75 mmHg during Valsalva, with a septal thickness of only 1.3 cm. Cardiac MRI showed an apically displaced multiheaded posteromedial papillary muscle with suggestion of aberrant chordal attachments to the anterior mitral leaflet contributing to systolic anterior motion of the mitral valve. She underwent surgery with reorientation of the posterior medial papillary muscle head, resection of the tethering secondary chordae to the A1 segment of the mitral valve, chordal shortening and tacking of the chordae to the A1 and A2 segments of the mitral valve, and gentle septal myectomy. After surgery, she had significant improvement in her prior symptoms. To our knowledge, this is the first reported case of obstructive cardiomyopathy without severe septal hypertrophy with abnormalities in papillary muscle and chordal attachment, in a patient diagnosed with vasovagal syncope and POTS.

Coordination between posture and movement: interaction between postural and accuracy constraints.

PubMed

Berrigan, Félix; Simoneau, Martin; Martin, Olivier; Teasdale, Normand

2006-04-01

We examined the interaction between the control of posture and an aiming movement. Balance control was varied by having subjects aim at a target from a seated or a standing position. The aiming difficulty was varied using a Fitts'-like paradigm (movement amplitude=30 cm; target widths=0.5, 1.0, 2.5 and 5 cm). For both postural conditions, all targets were within the reaching space in front of the subjects and kept at a fixed relative position with respect to the subjects' body. Hence, for a given target size, the aiming was differentiated only by the postural context (seated vs. upright standing). For both postural conditions, movement time (MT) followed the well-known Fitts' law, that is, it increased with a decreasing target size. For the smallest target width, however, the increased MT was greater when subjects were standing than when they were seated suggesting that the difficulty of the aiming task could not be determined solely by the target size. When standing, a coordination between the trunk and the arm was observed. Also, as the target size decreased, the center of pressure (CP) displacement increased without any increase in CP speed suggesting that the subjects were regulating their CP to provide a controlled referential to assist the hand movement. When seated, the CP kinematics was scaled with the hand movement kinematics. Increasing the index of difficulty led to a strong correlation between the hand speed and CP displacement and speed. The complex organization between posture and movement was revealed only by examining the specific interactions between speed-accuracy and postural constraints.

Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis

PubMed Central

Meyer-Bahlburg, Almut; Becker-Herman, Shirly; Humblet-Baron, Stephanie; Khim, Socheath; Weber, Michele; Bouma, Gerben; Thrasher, Adrian J.; Batista, Facundo D.

2008-01-01

To more precisely identify the B-cell phenotype in Wiskott-Aldrich syndrome (WAS), we used 3 distinct murine in vivo models to define the cell intrinsic requirements for WAS protein (WASp) in central versus peripheral B-cell development. Whereas WASp is dispensable for early bone marrow B-cell development, WASp deficiency results in a marked reduction in each of the major mature peripheral B-cell subsets, exerting the greatest impact on marginal zone and B1a B cells. Using in vivo bromodeoxyuridine labeling and in vitro functional assays, we show that these deficits reflect altered peripheral homeostasis, partially resulting from an impairment in integrin function, rather than a developmental defect. Consistent with these observations, we also show that: (1) WASp expression levels increase with cell maturity, peaking in those subsets exhibiting the greatest sensitivity to WASp deficiency; (2) WASp+ murine B cells exhibit a marked selective advantage beginning at the late transitional B-cell stage; and (3) a similar in vivo selective advantage is manifest by mature WASp+ human B cells. Together, our data provide a better understanding of the clinical phenotype of WAS and suggest that gene therapy might be a useful approach to rescue altered B-cell homeostasis in this disease. PMID:18687984

Social Postural Coordination

ERIC Educational Resources Information Center

Varlet, Manuel; Marin, Ludovic; Lagarde, Julien; Bardy, Benoit G.

2011-01-01

The goal of the current study was to investigate whether a visual coupling between two people can produce spontaneous interpersonal postural coordination and change their intrapersonal postural coordination involved in the control of stance. We examined the front-to-back head displacements of participants and the angular motion of their hip and…

Correlation Analysis between Traditional Chinese Medicine Syndromes and Gastrointestinal Bleeding after Percutaneous Coronary Intervention

PubMed Central

Huang, Chaolian; Wang, Mingming; Kong, Xiaolin; Liu, Guannan

2018-01-01

Objective To explore the characters of traditional Chinese medicine (TCM) syndromes after percutaneous coronary intervention (PCI) and to provide syndrome study theoretical evidence for TCM differentiation treatment after PCI through retrospective study. Methods Patients with coronary heart disease (CHD) who underwent PCI in Cardiovascular Intervention Center of Wangjing Hospital during Dec. 2012 to Dec. 2014 and met the inclusion criteria were enrolled. Retrospective study was then conducted based on patients' clinical document and angiography data to explore the distribution pattern of TCM syndromes. Results 801 patients were recruited in the study. TCM syndromes in descending order of their incidence were Qi deficiency and blood stasis syndrome, heart blood stasis syndrome, Qi and Yin deficiency syndrome, phlegm and blood stasis syndrome, Qi stagnation and blood stasis syndrome, Yang asthenia syndrome, heart and kidney yin deficiency syndrome to cold congeal, and blood stasis syndrome in a more to less order. Qi deficiency and blood stasis syndrome was in the most (occurring in 298 patients, 37.20%); Qi and Yin deficiency syndrome occurred in 163 patients (20.35%); heart blood stasis syndrome was shown in 126 patients (15.73%); phlegm and blood stasis syndrome was shown in 95 patients (11.86%). Conclusion Qi deficiency and blood stasis syndrome was closely associated with post-PCI bleeding, implying that this syndrome might serve as a powerful predictor of GI bleeding as well as a potential supplement to the current predicting and scoring system of bleeding such as CRUSADE.

Adaptation to transient postural perturbations

NASA Technical Reports Server (NTRS)

Andres, Robert O.

1992-01-01

This research was first proposed in May, 1986, to focus on some of the problems encountered in the analysis of postural responses gathered from crewmembers. The ultimate driving force behind this line of research was the desire to treat, predict, or explain 'Space Adaptation Syndrome' (SAS) and hence circumvent any adverse effects of space motion sickness on crewmember performance. The aim of this project was to develop an easily implemented analysis of the transient responses to platform translation that can be elicited with a protocol designed to force sensorimotor reorganization, utilizing statistically reliable criterion measures. This report will present: (1) a summary of the activity that took place in each of the three funded years of the project; (2) discussion of experimental results and their implications for future research; and (3) a list of presentations and publications resulting from this project.

Efficacy of modified LiuJunZi decoction on functional dyspepsia of spleen-deficiency and qi-stagnation syndrome: a randomized controlled trial

PubMed Central

2013-01-01

Background Chinese herbal medicine (CHM) has been used in China and some other countries for the treatment of patients with functional dyspepsia (FD). However, controlled studies supporting the efficacy of such treatments in patients with FD are lacking. In this trial, we aimed to assess the efficacy and safety of modified LiuJunZi decoction in patients with FD of spleen-deficiency and qi-stagnation syndrome. Methods We performed a randomized, double-blind, placebo-controlled trial with patients from five centers. Patients with FD of spleen-deficiency and qi-stagnation syndrome (n = 160) were randomly assigned to groups given CHM modified LiuJunZi decoction or placebo in a 2:1 ratio. Herbal or placebo granules were dissolved in 300 ml of boiled water cooled to 70°C. Patients in both groups were administered 150 ml (50°C) twice daily. The trial included a 4-week treatment period and a 4-week follow-up period. The primary outcomes were dyspepsia symptom scores, measured by the total dyspepsia symptom scale and the single dyspepsia symptom scale at weeks 0, 1, 2, 3, 4 and 8. The secondary outcome was the change of radiopaque barium markers emptied from the stomach between week 0 and week 4 of treatment. Results Compared with patients in the placebo group, patients in the CHM group showed significant improvements according to the scores of total dyspepsia symptoms and single dyspepsia symptoms obtained from patients (P < 0.01) and investigators (P < 0.01). They also showed an improvement in the number of radiopaque barium markers emptied from the stomach (P < 0.05). Conclusions CHM modified LiuJunZi decoction appears to offer symptomatic improvement in patients with FD of spleen-deficiency and qi-stagnation syndrome. Trial registration Chinese Clinical Trial Registry (ChiCTR): http://ChiCTR-TRC-10001074 PMID:23453018

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

PubMed

Péquignot, M O; Dey, R; Zeviani, M; Tiranti, V; Godinot, C; Poyau, A; Sue, C; Di Mauro, S; Abitbol, M; Marsac, C

2001-05-01

Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date. Copyright 2001 Wiley-Liss, Inc.

[Impacts on chronic fatigue syndrome of qi deficiency syndrome and T cell subgroups in patients treated with acupuncture at selective time].

PubMed

Ling, Jia-Yan; Shen, Lin; Liu, Qing; Wang, Ling-Yun

2013-12-01

To verify the clinical efficacy on chronic fatigue syndrome of qi deficiency syndrome treated with acupuncture at selective time and explore the effect mechanism. Eighty patients were randomized into a selective-time-acupuncture group and an acupuncture group, 40 cases in each one. Qihai (CV 6), Guanyuan (CV 4), Hegu (LI 4), Taichong (LR 3), Sanyinjiao (SP 6) and Zusanli (ST 36) were selected in the two groups. In the selective-time-acupuncture group, acupuncture was used at 9:00am to 11:00am. In the acupuncture group, acupuncture was used at any time except in the range from 9:00am to 11:00am. No any manipulation was applied after the arrival of needling sensation. The treatment was given once every day, 10 day treatment made one session and two sessions of treatment were required. The fatigue scale was adopted to evaluate the efficacy before and after treatment in the patients of the two groups. The ratios among CD3+, CD4+ and CD8+ T cells in the peripheral blood were detected before ad b a after treatment. In the acupuncture group, the total score of fatigue and the score of physical fatigue were reduced after treatment as compared with those before treatment (all P<0.05). In the selective-time -acupuncture group, the total score of fatigue, the s core of physical fatigue and the score of mental fatigue after treatment were reduced obviously as compared with those hefore treatment (all P<0. 01). The improvements in the scores of the selective-time-acupuncture group were superior to the acupuncture group (all P<0. 05). The ratio of CD3+ and CD8+ T cells was increased obviously after treatment in the two groups (all P<0. 05) and the ratio of CD4+ and CD8+ T cells was reduced obviously in the selective-time-acupuncture group (P<0. 05), which was better than that in the acupuncture group (all P<0.05). The total effective rate was 95.0% (38/40) in the selective-time-acupuncture group, which was better than 80.0% (32/40) in the acupuncture group (P<0.05). The

Common postural defects among music students.

PubMed

Blanco-Piñeiro, Patricia; Díaz-Pereira, M Pino; Martínez, Aurora

2015-07-01

Postural quality during musical performance affects both musculoskeletal health and the quality of the performance. In this study we examined the posture of 100 students at a Higher Conservatory of Music in Spain. By analysing video tapes and photographs of the students while performing, a panel of experts extracted values of 11 variables reflecting aspects of overall postural quality or the postural quality of various parts of the body. The most common postural defects were identified, together with the situations in which they occur. It is concluded that most students incur in unphysiological postures during performance. It is hoped that use of the results of this study will help correct these errors. Copyright © 2015 Elsevier Ltd. All rights reserved.

Thermoregulatory postures limit antipredator responses in peafowl

PubMed Central

Lam, Jennifer; Schultz, Rachel; Davis, Melissa

2018-01-01

ABSTRACT Many animals inhabit environments where they experience temperature fluctuations. One way in which animals can adjust to these temperature changes is through behavioral thermoregulation. However, we know little about the thermal benefits of postural changes and the costs they may incur. In this study, we examined the thermoregulatory role of two postures, the head-tuck and leg-tuck posture, in peafowl (Pavo cristatus) and evaluated whether the head-tuck posture imposes a predation cost. The heads and legs of peafowl are significantly warmer when the birds exhibit these postures, demonstrating that these postures serve an important thermoregulatory role. In addition, the birds are slower to respond to an approaching threat when they display the head-tuck posture, suggesting that a thermoregulatory posture can limit antipredator behavior. PMID:29305466

Thermoregulatory postures limit antipredator responses in peafowl.

PubMed

Yorzinski, Jessica L; Lam, Jennifer; Schultz, Rachel; Davis, Melissa

2018-01-05

Many animals inhabit environments where they experience temperature fluctuations. One way in which animals can adjust to these temperature changes is through behavioral thermoregulation. However, we know little about the thermal benefits of postural changes and the costs they may incur. In this study, we examined the thermoregulatory role of two postures, the head-tuck and leg-tuck posture, in peafowl ( Pavo cristatus ) and evaluated whether the head-tuck posture imposes a predation cost. The heads and legs of peafowl are significantly warmer when the birds exhibit these postures, demonstrating that these postures serve an important thermoregulatory role. In addition, the birds are slower to respond to an approaching threat when they display the head-tuck posture, suggesting that a thermoregulatory posture can limit antipredator behavior. © 2018. Published by The Company of Biologists Ltd.

Correlation between Trunk Posture and Neck Reposition Sense among Subjects with Forward Head Neck Postures

PubMed Central

Lee, Han Suk; Chung, Hyung Kuk; Park, Sun Wook

2015-01-01

Objective. To assess the correlation of abnormal trunk postures and reposition sense of subjects with forward head neck posture (FHP). Methods. In all, postures of 41 subjects were evaluated and the FHP and trunk posture including shoulder, scapular level, pelvic side, and anterior tilting degrees were analyzed. We used the head repositioning accuracy (HRA) test to evaluate neck position senses of neck flexion, neck extension, neck right and left side flexion, and neck right and left rotation and calculated the root mean square error in trials for each subject. Spearman's rank correlation coefficients and regression analysis were used to assess the degree of correlation between the trunk posture and HRA value, and a significance level of α = 0.05 was considered. Results. There were significant correlations between the HRA value of right side neck flexion and pelvic side tilt angle (p < 0.05). If pelvic side tilting angle increases by 1 degree, right side neck flexion increased by 0.76 degrees (p = 0.026). However, there were no significant correlations between other neck motions and trunk postures. Conclusion. Verifying pelvic postures should be prioritized when movement is limited due to the vitiation of the proprioceptive sense of neck caused by FHP. PMID:26583125

Clinical Endocannabinoid Deficiency Reconsidered: Current Research Supports the Theory in Migraine, Fibromyalgia, Irritable Bowel, and Other Treatment-Resistant Syndromes.

PubMed

Russo, Ethan B

2016-01-01

Medicine continues to struggle in its approaches to numerous common subjective pain syndromes that lack objective signs and remain treatment resistant. Foremost among these are migraine, fibromyalgia, and irritable bowel syndrome, disorders that may overlap in their affected populations and whose sufferers have all endured the stigma of a psychosomatic label, as well as the failure of endless pharmacotherapeutic interventions with substandard benefit. The commonality in symptomatology in these conditions displaying hyperalgesia and central sensitization with possible common underlying pathophysiology suggests that a clinical endocannabinoid deficiency might characterize their origin. Its base hypothesis is that all humans have an underlying endocannabinoid tone that is a reflection of levels of the endocannabinoids, anandamide (arachidonylethanolamide), and 2-arachidonoylglycerol, their production, metabolism, and the relative abundance and state of cannabinoid receptors. Its theory is that in certain conditions, whether congenital or acquired, endocannabinoid tone becomes deficient and productive of pathophysiological syndromes. When first proposed in 2001 and subsequently, this theory was based on genetic overlap and comorbidity, patterns of symptomatology that could be mediated by the endocannabinoid system (ECS), and the fact that exogenous cannabinoid treatment frequently provided symptomatic benefit. However, objective proof and formal clinical trial data were lacking. Currently, however, statistically significant differences in cerebrospinal fluid anandamide levels have been documented in migraineurs, and advanced imaging studies have demonstrated ECS hypofunction in post-traumatic stress disorder. Additional studies have provided a firmer foundation for the theory, while clinical data have also produced evidence for decreased pain, improved sleep, and other benefits to cannabinoid treatment and adjunctive lifestyle approaches affecting the ECS.

Chinese medicine syndrome distribution of chronic hepatitis B virus carriers in immunotolerant phase.

PubMed

Xie, He-ping; Yang, Hong-zhi; Wu, Wei-kang; Guan, Wei-bing; Ke, Qian-shan; Li, Yong-wei; Dai, Min; Xiao, Ge-min; Zhang, Jiong-shan; Li, Yang-mei

2014-02-01

To explore Chinese medicine (CM) syndrome distribution of chronic hepatitis B virus (HBV) carriers in immunotolerant phase (ITP). One hundred and eighty-five chronic HBV carriers in ITP, seen in the Third Affiliated Hospital of Sun Yat-sen University from May 2009 to December 2010, were admitted in an observational study under the guidance of CM. Patients' CM symptoms and signs, demographics, liver biochemistries, and qualitative HBV DNA were recorded in the questionnaires. CM syndromes were then differentiated to 15 detailed types and analyzed by generalization. Lastly, the location, pathogenic factors and nature of the disease were also assessed. When CM syndrome patterns were differentiated to 15 types, there were 27 (15%) no syndrome cases, 94 (50%) single syndrome cases and 64 (35%) compound syndromes cases. The main detailed syndromes included Liver (Gan)-qi depression (LQD), Kidney (Shen)-qi deficiency (KQD), Spleen (Pi)-qi deficiency (SQD) and Kidney-yang deficiency (KYAD). After CM syndromes generalized to five types, their frequency was Spleen-Kidney deficiency (SKD)>LQD>inner dampness-heat retention (IDHR)>Liver-Kidney deficiency (LKD)>blood stasis blocking collateral (BSBC). SKD and LQD occupied 64%. The disease location included Liver, Gallbladder (Dan), Spleen, Stomach (Wei) and Kidney. The pathogenic factors were mainly qi stagnation, qi deficiency, yang deficiency, concurrently dampness-heat and blood stasis. The deficiency syndrome was more than excess syndrome in its nature. Most of chronic HBV carriers in ITP have their CM syndrome, and the most common types are SKAD, LQD. This study suggests that the natural history may be improved through breaking the state of immune tolerance or shorten the time of ITP by strengthening Spleen-Kidney and reliving Liver qi.

Postural Coordination during Socio-motor Improvisation

PubMed Central

Gueugnon, Mathieu; Salesse, Robin N.; Coste, Alexandre; Zhao, Zhong; Bardy, Benoît G.; Marin, Ludovic

2016-01-01

Human interaction often relies on socio-motor improvisation. Creating unprepared movements during social interaction is not a random process but relies on rules of synchronization. These situations do not only involve people to be coordinated, but also require the adjustment of their posture in order to maintain balance and support movements. The present study investigated posture in such a context. More precisely, we first evaluated the impact of amplitude and complexity of arm movements on posture in solo situation. Then, we assessed the impact of interpersonal coordination on posture using the mirror game in which dyads performed improvised and synchronized movements (i.e., duo situation). Posture was measured through ankle-hip coordination in medio-lateral and antero-posterior directions (ML and AP respectively). Our results revealed the spontaneous emergence of in-phase pattern in ML direction and antiphase pattern in AP direction for solo and duo situations. These two patterns respectively refer to the simultaneous flexion/extension of the ankles and the hips in the same or opposite direction. It suggests different functional roles of postural coordination patterns in each direction, with in-phase supporting task performance in ML (dynamical stability) and antiphase supporting postural control in AP (mechanical stability). Although amplitude of movement did not influence posture, movement complexity disturbed postural stability in both directions. Conversely, interpersonal coordination promoted postural stability in ML but not in AP direction. These results are discussed in terms of the difference in coupling strength between ankle-hip coordination and interpersonal coordination. PMID:27547193

Postural Coordination during Socio-motor Improvisation.

PubMed

Gueugnon, Mathieu; Salesse, Robin N; Coste, Alexandre; Zhao, Zhong; Bardy, Benoît G; Marin, Ludovic

2016-01-01

Human interaction often relies on socio-motor improvisation. Creating unprepared movements during social interaction is not a random process but relies on rules of synchronization. These situations do not only involve people to be coordinated, but also require the adjustment of their posture in order to maintain balance and support movements. The present study investigated posture in such a context. More precisely, we first evaluated the impact of amplitude and complexity of arm movements on posture in solo situation. Then, we assessed the impact of interpersonal coordination on posture using the mirror game in which dyads performed improvised and synchronized movements (i.e., duo situation). Posture was measured through ankle-hip coordination in medio-lateral and antero-posterior directions (ML and AP respectively). Our results revealed the spontaneous emergence of in-phase pattern in ML direction and antiphase pattern in AP direction for solo and duo situations. These two patterns respectively refer to the simultaneous flexion/extension of the ankles and the hips in the same or opposite direction. It suggests different functional roles of postural coordination patterns in each direction, with in-phase supporting task performance in ML (dynamical stability) and antiphase supporting postural control in AP (mechanical stability). Although amplitude of movement did not influence posture, movement complexity disturbed postural stability in both directions. Conversely, interpersonal coordination promoted postural stability in ML but not in AP direction. These results are discussed in terms of the difference in coupling strength between ankle-hip coordination and interpersonal coordination.

Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis.

PubMed

Wright, Aaron T; Magnaldo, Thierry; Sontag, Ryan L; Anderson, Lindsey N; Sadler, Natalie C; Piehowski, Paul D; Gache, Yannick; Weber, Thomas J

2015-06-01

Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent Gorlin syndrome patients, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and ALDH1A1 protein deficiency in GDFs was confirmed by Western blot. A number of additional protein thiol differences in GDFs were identified, including radiation responsive annexin family members and lamin A/C. Collectively, candidates identified in our study have plausible implications for radiation health effects and cancer susceptibility. © 2013 Wiley Periodicals, Inc.

The influence of peripheral neuropathy, gender, and obesity on the postural stability of patients with type 2 diabetes mellitus.

PubMed

Herrera-Rangel, Aline; Aranda-Moreno, Catalina; Mantilla-Ochoa, Teresa; Zainos-Saucedo, Lylia; Jáuregui-Renaud, Kathrine

2014-01-01

To assess the influence of peripheral neuropathy, gender, and obesity on the postural stability of patients with type 2 diabetes mellitus. 151 patients with no history of otology, neurology, or orthopaedic or balance disorders accepted to participate in the study. After a clinical interview and neuropathy assessment, postural stability was evaluated by static posturography (eyes open/closed on hard/soft surface) and the "Up & Go" test. During static posturography, on hard surface, the length of sway was related to peripheral neuropathy, gender, age, and obesity; on soft surface, the length of sway was related to peripheral neuropathy, gender, and age, the influence of neuropathy was larger in males than in females, and closing the eyes increased further the difference between genders. The mean time to perform the "Up & Go" test was 11.6 ± 2.2 sec, with influence of peripheral neuropathy, gender, and age. In order to preserve the control of static upright posture during conditions with deficient sensory input, male patients with type 2 diabetes mellitus with no history of balance disorders may be more vulnerable than females, and obesity may decrease the static postural control in both males and females.

Androgen deficiency and dry eye syndrome in the aging male.

PubMed

Azcarate, Patrick M; Venincasa, Vincent D; Feuer, William; Stanczyk, Frank; Schally, Andrew V; Galor, Anat

2014-07-03

To evaluate the relationship between androgen levels and subjective and objective measures of dry eye syndrome (DES). A total of 263 male patients from the Miami Veterans Affairs Medical Center eye clinic aged ≥50 were recruited for this prospective cross-sectional study. Patients completed Dry Eye Questionnaire 5, underwent tear film evaluation, and had serum androgen levels measured. The correlations between androgen levels, DES composite scores, DES symptoms, and global, lipid, and aqueous tear film parameters were evaluated. Two hundred sixty-three patients with a mean age of 69 (50-95) were examined. There was no linear association between composite DES scores (generated using latent class analysis) and androgen levels. However, eyes with high DES scores (0.95-1.0) had higher levels of sex hormone-binding globulin (P = 0.03) and lower levels of dehydroepiandrosterone sulfate (DHEAS) (P = 0.02), androstenedione (A) (P = 0.02), and androstane-3α,17β-diol glucuronide (P = 0.03) compared to eyes with intermediate (0.05-0.95) or low (0-0.05) scores. There were no strong correlations between tear film measures and androgen levels. Regarding global parameters, a weak inverse correlation was found between corneal staining and A (r = -0.17, P = 0.009). For lipid parameters, a weak correlation existed between tear breakup time (TBUT) and A (r = 0.15, P = 0.02). When considering aqueous and lipid deficiency independently, the association between TBUT and A existed only with aqueous tear deficiency (r = 0.66, P = 0.002). Regarding aqueous parameters, a weak correlation existed between Schirmer test and DHEAS (r = 0.13, P = 0.047) and A (r = 0.21, P = 0.001). There was a weak correlation between higher levels of androstenedione and healthier global, lipid, and aqueous tear film parameters. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

Anatomy and histochemistry of hindlimb flight posture in birds. I. The extended hindlimb posture of shorebirds.

PubMed

McFarland, Joshua C; Meyers, Ron A

2008-08-01

Birds utilize one of two hindlimb postures during flight: an extended posture (with the hip and knee joints flexed, while the ankle joint is extended caudally) or a flexed posture (with the hip, knee, and ankle joints flexed beneath the body). American Avocets (Recurvirostra americana) and Black-necked Stilts (Himantopus mexicanus) extend their legs caudally during flight and support them for extended periods. Slow tonic and slow twitch muscle fibers are typically found in muscles functioning in postural support due to the fatigue resistance of these fibers. We hypothesized that a set of small muscles composed of high percentages of slow fibers and thus dedicated to postural support would function in securing the legs in the extended posture during flight. This study examined the anatomy and histochemical profile of eleven hindlimb muscles to gain insight into their functional roles during flight. Contrary to our hypothesis, all muscles possessed both fast twitch and slow twitch or slow tonic fibers. We believe this finding is due to the versatility of dynamic and postural functions the leg muscles must facilitate, including standing, walking, running, swimming, and hindlimb support during flight. Whether birds use an extended or flexed hindlimb flight posture may be related to the aerodynamic effect of leg position or may reflect evolutionary history. (c) 2008 Wiley-Liss, Inc.

Anticipatory and compensatory postural adjustments in individuals with multiple sclerosis in response to external perturbations.

PubMed

Aruin, Alexander S; Kanekar, Neeta; Lee, Yun-Ju

2015-03-30

Deficit in balance control is a common and often an initial disabling symptom of multiple sclerosis (MS). The aim of the study was to investigate the organization of anticipatory and compensatory postural adjustments in individuals with MS dealing with external perturbations. Ten individuals with MS and ten age-and-gender matched healthy controls were exposed to external perturbations applied at the shoulder level. The perturbations were either predictable or unpredictable as subjects stood with eyes open or closed. Electrical activity of six leg and trunk muscles as well as displacements of the center of pressure (COP) were recorded and quantified within the time intervals typical of anticipatory (APAs) and compensatory (CPAs) postural adjustments. Individuals with MS demonstrated delayed anticipatory onsets of muscle activity and smaller anticipatory COP displacements as compared to healthy control subjects. The deficiency of the APAs was associated with increased displacements of the COP during the balance restoration phase. The results demonstrate the underlying impairment in anticipatory postural control of individuals with MS. The study outcome provides a background for development of rehabilitation strategies focused on balance restoration in people with MS. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.

PubMed

Garrity, Deborah M; Childs, Sarah; Fishman, Mark C

2002-10-01

Holt-Oram syndrome is one of the autosomal dominant human "heart-hand" disorders, with a combination of upper limb malformations and cardiac defects. Holt-Oram syndrome is caused by mutations in the TBX5 gene, a member of a large family of T-box transcription factors that play important roles in cell-type specification and morphogenesis. In a screen for mutations affecting zebrafish cardiac function, we isolated the recessive lethal mutant heartstrings, which lacks pectoral fins and exhibits severe cardiac dysfunction, beginning with a slow heart rate and progressing to a stretched, non-functional heart. We mapped and cloned the heartstrings mutation and find it to encode the zebrafish ortholog of the TBX5 gene. The heartstrings mutation causes premature termination at amino acid 316. Homozygous mutant embryos never develop pectoral fin buds and do not express several markers of early fin differentiation. The total absence of any fin bud differentiation distinguishes heartstrings from most other mutations that affect zebrafish fin development, suggesting that Tbx5 functions very early in the pectoral fin induction pathway. Moderate reduction of Tbx5 by morpholino causes fin malformations, revealing an additional early requirement for Tbx5 in coordinating the axes of fin outgrowth. The heart of heartstrings mutant embryos appears to form and function normally through the early heart tube stage, manifesting only a slight bradycardia compared with wild-type siblings. However, the heart fails to loop and then progressively deteriorates, a process affecting the ventricle as well as the atrium. Relative to mammals, fish require lower levels of Tbx5 to produce malformed appendages and display whole-heart rather than atrial-predominant cardiac defects. However, the syndromic deficiencies of tbx5 mutation are remarkably well retained between fish and mammals.

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

PubMed

van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

2016-11-01

Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are applied to overcome problematic PMS2 mutation analysis due to the presence of pseudogenes and frequent gene conversion events. Here, we determined PMS2 mutation detection yield and mutation spectrum in a nationwide cohort of 396 probands. Furthermore, we studied concordance between tumor IHC/MSI (immunohistochemistry/microsatellite instability) profile and mutation carrier state. Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients. In vitro mismatch repair assays suggested pathogenicity for three missense variants. Ninety-one PMS2 mutation carriers (70%) showed isolated loss of PMS2 in their tumors, for 31 (24%) no or inconclusive IHC was available, and eight carriers (6%) showed discordant IHC (presence of PMS2 or loss of both MLH1 and PMS2). Ten cases with isolated PMS2 loss (10%; 10/97) harbored MLH1 mutations. We confirmed that recently improved mutation analysis provides a high yield of PMS2 mutations in patients with isolated loss of PMS2 expression. Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers. © 2016 WILEY PERIODICALS, INC.

The dentist's operating posture - ergonomic aspects.

PubMed

Pîrvu, C; Pătraşcu, I; Pîrvu, D; Ionescu, C

2014-06-15

The practice of dentistry involves laborious high finesse dental preparations, precision and control in executions that require a particular attention, concentration and patience of the dentist and finally the dentist's physical and mental resistance. The optimal therapeutic approach and the success of practice involve special working conditions for the dentist and his team in an ergonomic environment. The meaning of the posture in ergonomics is the manner in which different parts of the body are located and thus the reports are established between them in order to allow a special task execution. This article discusses the posture adopted by dentists when they work, beginning with the balanced posture and going to different variants of posture. The ideal posture of a dentist gives him, on the one hand the optimal working conditions (access, visibility and control in the mouth) and on the other hand, physical and psychological comfort throughout the execution of the clinical acts. Although the theme of dentist posture is treated with great care and often presented in the undergraduate courses and the continuing education courses on ergonomics in dentistry, many dentists do not know the subject well enough nor the theoretical issues and therefore nor the practical applicability. The risk and perspective of the musculoskeletal disorders related to unbalanced postures should determine the dentists take postural corrective actions and compensation measures in order to limit the negative effects of working in a bad posture.

Osteoporosis and Low Bone Mineral Density in Men with Testosterone Deficiency Syndrome.

PubMed

Gaffney, Christopher D; Pagano, Matthew J; Kuker, Adriana P; Stember, Doron S; Stahl, Peter J

2015-10-01

Testosterone deficiency syndrome (TDS) is a risk factor for low bone mineral density (BMD) and osteoporosis. Knowledge of the relationship between TDS and bone health, as well as the practical aspects of how to diagnose and treat low BMD, is therefore of practical importance to sexual medicine practitioners. The aim of this study was to review the physiologic basis and clinical evidence of the relationship between TDS and bone health; and to provide a practical, evidence-based algorithm for the diagnosis and management of low BMD in men with TDS. Method used was a review of relevant publications in PubMed. Pathophysiology of low BMD in TDS, morbidity, and mortality of osteoporosis in men, association between TDS and osteoporosis, indications for dual X-ray absorptiometry (DXA) scanning in TDS, evidence for testosterone replacement therapy (TRT) in men with osteoporosis, treatment for osteoporosis in the setting of TDS. Sex hormones play a pleomorphic role in maintenance of BMD. TDS is associated with increased risk of osteoporosis and osteopenia, both of which contribute to morbidity and mortality in men. DXA scanning is indicated in men older than 50 years with TDS, and in younger men with longstanding TDS. Men with TDS and osteoporosis should be treated with anti-osteoporotic agents and TRT should be highly considered. Men with osteopenia should be stratified by fracture risk. Those at high risk should be treated with anti-osteoporotic agents with strong consideration of TRT; while those at low risk should be strongly considered for TRT, which has a beneficial effect on BMD. Low BMD is a prevalent and treatable cause of morbidity and mortality in men with TDS. Utilization of a practical, evidence-based approach to diagnosis and treatment of low BMD in men with TDS enables sexual medicine practitioners to make a meaningful impact on patient quality of life and longevity. Gaffney CD, Pagano MJ, Kuker AP, Stember DS, and Stahl PJ. Osteoporosis and low bone mineral

Relationship between Muscle Function, Muscle Typology and Postural Performance According to Different Postural Conditions in Young and Older Adults.

PubMed

Paillard, Thierry

2017-01-01

Although motor output of the postural function clearly influences postural performance in young and older subjects, no relationship has been formally established between them. However, the relationship between lower-extremity muscle strength/power and postural performance is often pointed out, especially in older subjects. In fact, the influence of motor output may vary according to the postural condition considered (e.g., static, dynamic, challenging, disturbing). In static postural condition, there may be a relationship between lower-extremity muscle strength and postural performance when the value of muscle strength is below a certain threshold in older subjects. Above this threshold of muscle strength, this relationship may disappear. In dynamic postural condition, lower-extremity muscle power could facilitate compensatory postural actions, limiting induced body imbalance likely to generate falls in older subjects. In young subjects, there could be a relationship between very early rapid torque of the leg extensor muscles and postural performance. In the case of postural reaction to (external) perturbations, a high percentage of type II muscle fibers could be associated with the ability to react quickly to postural perturbations in young subjects, while it may enable a reduction in the risk of falls in older subjects. In practice, in older subjects, muscle strength and/or power training contributes to reducing the risk of falls, as well as slowing down the involution of muscle typology regarding type II muscle fibers.

Burning Mouth Syndrome and "Burning Mouth Syndrome".

PubMed

Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

Prevalence and association of metabolic syndrome and vitamin D deficiency among postmenopausal women in a rural block of West Bengal, India.

PubMed

Srimani, Soumi; Saha, Indranil; Chaudhuri, Debnath

2017-01-01

Prevalence of metabolic syndrome (MS) and vitamin D deficiency was reported among postmenopausal women (PMW) in India. However, no report is available regarding the association of MS and 25-hydroxyvitamin D [25(OH)D] among PMW in India. This study aimed to find out the prevalence of MS and 25(OH)D status as well as their association among rural PMW of West Bengal, India. This cross-sectional study was conducted among 222 randomly selected rural PMW in Singur Block, West Bengal, India. Serum 25(OH)D, Blood pressure (BP), waist circumference (WC), fasting blood glucose (FBG), triglycerides (TG) and high density lipoprotein cholesterol (HDL-C) were measured using standard procedures. MS was defined as per International Diabetes Federation, 2005 (for Asian-Indians) criteria. Statistical tests were done using SPSS software. Prevalence of metabolic syndrome was 46%. 51% and 19% PMW were vitamin D insufficient and deficient, respectively. 22% and 53% women having MS were vitamin D insufficient and deficient, respectively. Among the PMW, 21% and 47% with WC≥80cm; 22% and 62% with FBG≥110mg/dl; 21% and 54% with TG≥150mg/dl; 23% and 51% with HDL-C<50mg/dl, 15% and 55% with BP≥130/85mm of Hg were vitamin D insufficient and deficient, respectively. Significant statistical association between FBG and 25(OH)D status existed (p = 0.01). Significant positive correlation between WC and 25(OH)D level (p = 0.004) and significant negative correlation between FBG and 25(OH)D level observed (p = 0.02). WC was the only statistically significant predictor of the dependent variable. Odds of non-sufficient 25(OH)D level increased with decrease in WC. High prevalence of MS as well as vitamin D insufficiency and deficiency existed among PMW of Singur block, West Bengal, India. 25(OH)D had significant inverse and direct relationship with FBG and WC. Low 25(OH)D may be one of the potential risk factors for developing MS in PMW or vice-versa.

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans

PubMed Central

Elmakky, Amira; Stanghellini, Ilaria; Landi, Antonio; Percesepe, Antonio

2015-01-01

Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome). The genetics of radial deficiencies is complex, characterized by genetic heterogeneity and high inter- and intra-familial clinical variability: this review will analyze the etiopathogenesis and the genotype/phenotype correlations of the main radial deficiency disorders in humans. PMID:26962299

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

PubMed Central

2013-01-01

3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome. Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low birth weight (2400 g=−3.36 standard deviation score, SDS) and length (40.0 cm =−6.53 SDS). At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax and long slender bones. Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of 3-M syndrome was made; this was also confirmed by the finding of a homozygous deletion in exon 18 of the CUL7 gene, which has not been previously described. The patient also exhibited severe GHD (GH <5 ng/ml) and from the age of 18 months was treated with rhGH. Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (−6.42 SDS). PMID:23517720

[Time-dependent heart rate variability in the head-up tilt test in children with postural orthostatic tachycardia syndrome].

PubMed

Ran, Jing; Wang, Cheng; Zou, Run-Mei; Wu, Li-Jia; Lin, Ping; Li, Fang; Xu, Yi

2015-10-01

To study the time-dependent heart rate (HR) variability in the head-up tilt test (HUTT) in children with postural orthostatic tachycardia syndrome (POTS) and to explore the HR diagnostic criteria for POTS in children. A retrospective analysis was performed on the clinical data of 105 children diagnosed with POTS with HR≥120 beats per minute (bpm) within the first 10 minutes of HUTT between January 2007 and December 2014. Their HR variability within the first 10 minutes of HUTT was analyzed. The HR of children with POTS increased gradually from the supine position to a 60° head-up tilt position, and the increase in HR was 24±12 bpm at the beginning of HUTT, 30±14 bpm at 3 minutes of HUTT, 32±13 bpm at 5 minutes of HUTT, and 38±12 bpm at 10 minutes of HUTT. The average maximal HR increase within the first 10 minutes of HUTT was 43±10 bpm. In children with POTS, the HR variability gradually increases with time, and therefore, it is suggested that HR increase ≥40 bpm is more suitable for diagnosis of POTS in children.

Guide to Good Posture

MedlinePlus

... Affect how well your joints move Affect your balance and increase your risk of falling Make it harder to digest your food Make it harder to breathe How can I improve my posture in general? Be mindful of your posture during everyday activities, ...

The influence of foot posture on dorsiflexion range of motion and postural control in those with chronic ankle instability.

PubMed

Hogan, Kathleen K; Powden, Cameron J; Hoch, Matthew C

2016-10-01

To investigate the effect of foot posture on postural control and dorsiflexion range of motion in individuals with chronic ankle instability. The study employed a cross-sectional, single-blinded design. Twenty-one individuals with self-reported chronic ankle instability (male=5; age=23.76(4.18)years; height=169.27(11.46)cm; weight=73.65(13.37)kg; number of past ankle sprains=4.71(4.10); episode of giving way=17.00(18.20); Cumberland Ankle Instability Score=18.24(4.52); Ankle Instability Index=5.86(1.39)) participated. The foot posture index was used to categorize subjects into pronated (n=8; Foot Posture Index=7.50(0.93)) and neutral (n=13; Foot Posture Index=3.08(1.93)) groups. The dependent variables of dorsiflexion ROM and dynamic and static postural control were collected for both groups at a single session. There were no significant differences in dorsiflexion range of motion between groups (p=0.22) or any of the eyes open time-to-boundary variables (p>0.13). The pronated group had significantly less dynamic postural control than the neutral group as assessed by the anterior direction of the Star Excursion Balance Test (p<0.04). However, the pronated group had significantly higher time-to-boundary values than the neutral group for all eyes closed time-to-boundary variables (p≤0.05), which indicates better eyes closed static postural control. Foot posture had a significant effect on dynamic postural control and eyes closed static postural control in individuals with chronic ankle instability. These findings suggest that foot posture may influence postural control in those with chronic ankle instability. Copyright © 2016 Elsevier Ltd. All rights reserved.

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

PubMed

Westdorp, Harm; Kolders, Sigrid; Hoogerbrugge, Nicoline; de Vries, I Jolanda M; Jongmans, Marjolijn C J; Schreibelt, Gerty

2017-09-10

Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations in MMR genes. This syndrome is characterized by the development of childhood cancer. Patients with CMMRD are at extremely high risk of developing multiple cancers including hematological, brain and intestinal tumors. Mutations in MMR genes impair DNA repair and therefore most tumors of patients with CMMRD are hypermutated. These mutations lead to changes in the translational reading frame, which consequently result in neoantigen formation. Neoantigens are recognized as foreign by the immune system and can induce specific immune responses. The growing evidence on the clinical efficacy of immunotherapies, such as immune checkpoint inhibitors, offers the prospect for treatment of patients with CMMRD. Combining neoantigen-based vaccination strategies and immune checkpoint inhibitors could be an effective way to conquer CMMRD-related tumors. Neoantigen-based vaccines might also be a preventive treatment option in healthy biallelic MMR mutation carriers. Future studies need to reveal the safety and efficacy of immunotherapies for patients with CMMRD. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

Relationship between Muscle Function, Muscle Typology and Postural Performance According to Different Postural Conditions in Young and Older Adults

PubMed Central

Paillard, Thierry

2017-01-01

Although motor output of the postural function clearly influences postural performance in young and older subjects, no relationship has been formally established between them. However, the relationship between lower-extremity muscle strength/power and postural performance is often pointed out, especially in older subjects. In fact, the influence of motor output may vary according to the postural condition considered (e.g., static, dynamic, challenging, disturbing). In static postural condition, there may be a relationship between lower-extremity muscle strength and postural performance when the value of muscle strength is below a certain threshold in older subjects. Above this threshold of muscle strength, this relationship may disappear. In dynamic postural condition, lower-extremity muscle power could facilitate compensatory postural actions, limiting induced body imbalance likely to generate falls in older subjects. In young subjects, there could be a relationship between very early rapid torque of the leg extensor muscles and postural performance. In the case of postural reaction to (external) perturbations, a high percentage of type II muscle fibers could be associated with the ability to react quickly to postural perturbations in young subjects, while it may enable a reduction in the risk of falls in older subjects. In practice, in older subjects, muscle strength and/or power training contributes to reducing the risk of falls, as well as slowing down the involution of muscle typology regarding type II muscle fibers. PMID:28861000

Relationship between postural alignment in sitting by photogrammetry and seated postural control in post-stroke subjects.

PubMed

Iyengar, Y R; Vijayakumar, K; Abraham, J M; Misri, Z K; Suresh, B V; Unnikrishnan, B

2014-01-01

This study was executed to find out correlation between postural alignment in sitting measured through photogrammetry and postural control in sitting following stroke. A cross-sectional study with convenient sampling consisting of 45 subjects with acute and sub-acute stroke. Postural alignment in sitting was measured through photogrammetry and relevant angles were obtained through software MB Ruler (version 5.0). Seated postural control was measured through Function in Sitting Test (FIST). Correlation was obtained using Spearman's Rank Correlation co-efficient in SPSS software (version 17.0). Moderate positive correlation (r = 0.385; p < 0.01) was found between angle of lordosis and angle between acromion, lateral epicondyle and point between radius and ulna. Strong negative correlation (r = -0.435; p < 0.01) was found between cranio-vertebral angle and kyphosis. FIST showed moderate positive correlation (r = 0.3446; p < 0.05) with cranio-vertebral angle and strong positive correlation (r = 0.4336; p < 0.01) with Brunnstrom's stage of recovery in upper extremity. Degree of forward head posture in sitting correlates directly with seated postural control and inversely with degree of kyphosis in sitting post-stroke. Postural control in sitting post-stroke is directly related with Brunnstrom's stage of recovery in affected upper extremity in sitting.

Pyoderma gangrenosum in association with microscopic colitis, idiopathic hypereosinophilic syndrome, selective IgE deficiency and diabetes mellitus.

PubMed

Riyaz, N; Sasidharanpillai, S; Rahima, S; Bindu, V; Shaan, M; Raghavan, N T; Mohan, L; Janardhanan, A K

2015-08-01

Pyoderma gangrenosum (PG) is a neutrophilic dermatosis of unknown aetiology. We report a 27-year-old male patient with diabetes, who presented with a nonhealing ulcer on the left leg, pruritic hyperpigmented papules distributed over the trunk and limbs, and chronic diarrhoea. He had eosinophilia, low haemoglobin and serum IgE levels, and raised erythrocyte sedimentation rate. Histopathology of the leg ulcer was consistent with the diagnosis of PG, while the histology of the hyperpigmented papule revealed tissue eosinophilia. Subsequent evaluation was conclusive of the diagnosis of PG, idiopathic hypereosinophilic syndrome (IHES) and selective IgE deficiency. Dexamethasone pulse therapy achieved resolution of the ulcer and reduction in the eosinophilia. Further evaluation for the persistent diarrhoea led to a diagnosis of lymphocytic colitis (LC), which responded to budesonide. To our knowledge, the association of PG with IHES, selective IgE deficiency or LC has not been previously reported. © 2015 British Association of Dermatologists.

Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.

PubMed

van Riesen, A K J; Antonicka, H; Ohlenbusch, A; Shoubridge, E A; Wilichowski, E K G

2006-04-01

Cytochrome c oxidase deficiency (COX) is the most frequent cause of Leigh syndrome (LS), a mitochondrial subacute necrotizing encephalomyelopathy. Most of these LS (COX-) patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX complex. We describe a family whose first-born boy developed characteristic features of LS. Severe COX deficiency in muscle was caused by a novel homozygous nonsense mutation in SURF1. Segregation analysis of this mutation in the family was incompatible with autosomal recessive inheritance but consistent with a maternal disomy. Haplotype analysis of microsatellite markers confirmed isodisomy involving nearly the complete long arm of chromosome 9 (9q21-9tel). No additional physical abnormalities were present in the boy, suggesting that there are no imprinted genes on the long arm of chromosome 9 which are crucial for developmental processes. This case of segmental isodisomy illustrates that genotyping of parents is crucial for correct genetic counseling.

Assessment of postural balance function.

PubMed

Kostiukow, Anna; Rostkowska, Elzbieta; Samborski, Włodzimierz

2009-01-01

Postural balance is defined as the ability to stand unassisted without falling. Examination of the patient's postural balance function is a difficult diagnostic task. Most of the balance tests used in medicine provide incomplete information on this coordination ability of the human body. The aim of this study was to review methods of assessment of the patient's postural balance function, including various tests used in medical diagnostics centers.

Platypnea-orthodeoxia syndrome in the right lateral decubitus position: a case report.

PubMed

Tsuzuki, Ippei; Iigaya, Kamon; Matsubara, Takashi; Takagi, Shunsuke; Inohara, Taku; Ohgino, Yasuyuki; Imafuku, Toshio

2017-04-12

Platypnea-orthodeoxia syndrome is a rare syndrome characterized by dyspnea and hypoxia when the patient is sitting or standing. Here we report a case of platypnea-orthodeoxia syndrome caused by a right hemidiaphragmatic elevation with giant liver cyst that triggered a right-to-left shunt through the patent foramen ovale. This case report is the first presentation of a case secondary to hemidiaphragmatic elevation with giant liver cyst. In addition to this, a malposition of the pacemaker lead could be associated with platypnea-orthodeoxia syndrome in this case. A 91-year-old Japanese woman presented to our hospital with hypoxia of unknown origin. Severe hypoxia and cyanosis were observed only in the right lateral decubitus position. A chest X-ray and computed tomography scan revealed right hemidiaphragmatic elevation, which was probably compressing the right atrium. A transesophageal echocardiogram showed a compressed right atrium and shunt blood flow in both directions: from the left to the right atrium and vice versa. The shunt flow was exacerbated by postural changes from the left to the right lateral decubitus. A transesophageal echocardiogram also confirmed compression of the right atrium due to giant liver cyst and a malposition of the pacemaker lead abnormally placed in the left atrium through patent foramen ovale. We concluded that the cause of hypoxia was platypnea-orthodeoxia syndrome with right-to-left interatrial shunt through patent foramen ovale. Surgical closure of patent foramen ovale was not performed due to the age of our patient, surgical difficulties, and failure to obtain informed consent. For these reasons she was discharged after receiving medical advice about her posture. Platypnea-orthodeoxia syndrome is rare and difficult to diagnose. The present case suggests that hypoxia due to postural changes should be considered a differential diagnosis of platypnea-orthodeoxia syndrome.

Gait, posture and cognition in Parkinson's disease

PubMed Central

Barbosa, Alessandra Ferreira; Chen, Janini; Freitag, Fernanda; Valente, Debora; Souza, Carolina de Oliveira; Voos, Mariana Callil; Chien, Hsin Fen

2016-01-01

Gait disorders and postural instability are the leading causes of falls and disability in Parkinson's disease (PD). Cognition plays an important role in postural control and may interfere with gait and posture assessment and treatment. It is important to recognize gait, posture and balance dysfunctions by choosing proper assessment tools for PD. Patients at higher risk of falling must be referred for rehabilitation as early as possible, because antiparkinsonian drugs and surgery do not improve gait and posture in PD. PMID:29213470

Postural stability of sitting women.

PubMed

Nag, Pranab K; Vyas, Heer; Nag, Anjali; Pal, Swati

2013-01-01

The study examined the utility of stabilometric dimensions and explored whether the changes in sitting postures were manifested in functional measures of postural control. Eleven women participated in the study, which used 11 chair sitting postures: arms on laps or arms right angled; armrest at a height of 17, 20 and 23 cm; with or without backrest; slouch or straight back; legs right angled at knees or crossed legs. The backrest and armrest shifted 16.3% of body weight from a seat pan. The characteristics of stabilometric dimensions evaluated the influence of seat components and sitting behaviour on postural balance. The study attempted to evaluate stability and its application in human-seat interface design.

Nutrition and hair: deficiencies and supplements.

PubMed

Finner, Andreas M

2013-01-01

Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examination of hair loss activity, and hair quality and confirmed through targeted laboratory tests. Examples of genetic hair disorders caused by reduced nutritional components are zinc deficiency in acrodermatitis enteropathica and copper deficiency in Menkes kinky hair syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

Neck pain and postural balance among workers with high postural demands - a cross-sectional study

PubMed Central

2011-01-01

Background Neck pain is related to impaired postural balance among patients and is highly prevalent among workers with high postural demands, for example, cleaners. We therefore hypothesised, that cleaners with neck pain suffer from postural dysfunction. This cross-sectional study tested if cleaners with neck pain have an impaired postural balance compared with cleaners without neck pain. Methods Postural balance of 194 cleaners with (n = 85) and without (N = 109) neck pain was studied using three different tests. Success or failure to maintain the standing position for 30 s in unilateral stance was recorded. Participants were asked to stand on a force platform for 30 s in the Romberg position with eyes open and closed. The centre of pressure of the sway was calculated, and separated into a slow (rambling) and fast (trembling) component. Subsequently, the 95% confidence ellipse area (CEA) was calculated. Furthermore a perturbation test was performed. Results More cleaners with neck pain (81%) failed the unilateral stance compared with cleaners without neck pain (61%) (p < 0.01). However, the risk of failure in unilateral stance was statistically elevated in cleaners with concurrent neck/low back pain compared to cleaners without neck/low back pain (p < 0.01), whereas pain at only neck or only low back did not increase the risk. Impaired postural balance, measured as CEA (p < 0.01), rambling (p < 0.05) and trembling (p < 0.05) was observed among cleaners with neck pain in comparison with cleaners without neck pain in the Romberg position with eyes closed, but not with eyes open. Conclusions Postural balance is impaired among cleaners with neck pain and the current study suggests a particular role of the slow component of postural sway. Furthermore, the unilateral stance test is a simple test to illustrate functional impairment among cleaners with concurrent neck and low back pain. Trial registration ISRCTN96241850 PMID:21806796

Postural Control in Children with Autism.

ERIC Educational Resources Information Center

Kohen-Raz, Reuven; And Others

1992-01-01

Postural control was evaluated in 91 autistic, 166 normal, and 18 mentally retarded children using a computerized posturographic procedure. In comparison to normal children, the autistic subjects were less likely to exhibit age-related changes in postural performance, and postures were more variable and less stable. (Author/JDD)

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome.

PubMed

Lee, Sang Soo; Han, A-Leum; Ahn, Moon Bae; Kim, Shin Hee; Cho, Won Kyoung; Cho, Kyoung Soon; Park, So Hyun; Jung, Min Ho; Suh, Byung-Kyu

2017-03-01

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.

Measuring postural control during mini-squat posture in men with early knee osteoarthritis.

PubMed

Petrella, M; Gramani-Say, K; Serrão, P R M S; Lessi, G C; Barela, J A; Carvalho, R P; Mattiello, S M

2017-04-01

Studies have suggested a compromised postural control in individuals with knee osteoarthritis (OA) evidenced by larger and faster displacement of center of pressure (COP). However, quantification of postural control in the mini-squat posture performed by patients with early knee OA and its relation to muscle strength and self-reported symptoms have not been investigated. The main aim of this cross-sectional, observational, controlled study was to determine whether postural control in the mini-squat posture differs between individuals with early knee OA and a control group (CG) and verify the relation among knee extensor torque (KET) and self-reported physical function, stiffness and pain. Twenty four individuals with knee OA grades I and II (OAG) (mean age: 52.35±5.00) and twenty subjects without knee injuries (CG) (mean age: 51.40±8.07) participated in this study. Participants were assessed in postural control through a force plate (Bertec Mod. USA), which provided information about the anterior-posterior (AP) and medial-lateral (ML) COP displacement during the mini-squat, in isometric, concentric and eccentric knee extensor torque (KET) (90°/s) through an isokinetic dynamometer (BiodexMulti-Joint System3, Biodex Medical Incorporation, New York, NY, USA), and in self-reported symptoms through the WOMAC questionnaire. The main outcomes measured were the AP and ML COP amplitude and velocity of displacement; isometric, concentric, and eccentric KET and self-reported physical function, stiffness and pain. No significant differences were found between groups for postural control (p>0.05). Significant lower eccentric KET (p=0.01) and higher scores for the WOMAC subscales of pain (p=<0.001), stiffness (p=0.001) and physical function (p<0.001) were found for the OAG. Moderate and negative correlations were found between the AP COP amplitude of displacement and physical function (ρ=-0.40, p=0.02). Moderate and negative correlations were observed between the AP COP

Genetics Home Reference: guanidinoacetate methyltransferase deficiency

MedlinePlus

... E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. ... Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct;115( ...

Pi (Spleen)-deficiency syndrome in tumor microenvironment is the pivotal pathogenesis of colorectal cancer immune escape.

PubMed

Sun, Xue-Gang; Lin, Xiao-Chang; Diao, Jian-Xin; Yu, Zhi-Ling; Li, Kun

2016-10-01

Cancer immunoediting consists of three sequential phases: elimination, equilibrium, and escape. For colorectal adenoma-carcinoma sequence, the adenoma dysplastic progression may represent an equilibrium phase and the cancer stage as escape phase. Immune system eliminates transformed enterocytes by destroying them at first, sculpts them at the same time and selects the variants subsequently that are no longer recognized and insensitive to immune effectors, and finally induces immunosuppressive state within the tumor microenvironment that facilitates immune escape and tumor outgrowth. Immunosuppression and inflammation are the two crucial features of Pi (Spleen)-deficiency. Classic quotations, immune evidence and clinical observations suggest that Spleen (but not other organs) deficiency is the key pathogenesis of colorectal cancer (CRC) microenvironment. Weakness of old age, immunosuppressive cytokines from chronic inflammation, tumor-derived immunosuppressive factors and surrendered immune cells-regulatory T cells, myeloid-derived suppressor cells and tumor associated macrophages (TAMs) constitutes CRC microenvironment of Pi-deficiency. Furthermore, excess in superficiality, such as phlegm stagnation, blood stasis and toxin accumulation are induced by chronic inflammation on the basis of asthenia in origin, an immunosuppressive state. Great masters of Chinese medicine emphasize that strengthen Pi is the chief therapeutic principle for CRC which receives good therapeutic effects. So, Pi-deficiency based syndrome is the pivotal pathogenesis of tumor microenvironment. The immunosuppressive microenvironment facilitates immune escape which play an important role in the transition from adenoma to adenocarcinoma. There are some signs that strengthen Pi based treatment has potential capacity to ameliorate tumor environment. It might be a novel starting point to explore the mechanism of strengthen Pi based therapy in the prevention and treatment of CRC through regulation of

Trunk posture monitoring with inertial sensors

PubMed Central

Wong, Man Sang

2008-01-01

Measurement of human posture and movement is an important area of research in the bioengineering and rehabilitation fields. Various attempts have been initiated for different clinical application goals, such as diagnosis of pathological posture and movements, assessment of pre- and post-treatment efficacy and comparison of different treatment protocols. Image-based methods for measurements of human posture and movements have been developed, such as the radiography, photogrammetry, optoelectric technique and video analysis. However, it is found that these methods are complicated to set up, time-consuming to operate and could only be applied in laboratory environments. This study introduced a method of using a posture monitoring system in estimating the spinal curvature changes during trunk movements on the sagittal and coronal planes and providing trunk posture monitoring during daily activities. The system consisted of three sensor modules, each with one tri-axial accelerometer and three uni-axial gyroscopes orthogonally aligned, and a digital data acquisition and feedback system. The accuracy of this system was tested with a motion analysis system (Vicon 370) in calibration with experimental setup and in trunk posture measurement with nine human subjects, and the performance of the posture monitoring system during daily activities with two human subjects was reported. The averaged root mean squared differences between the measurements of the system and motion analysis system were found to be <1.5° in dynamic calibration, and <3.1° for the sagittal plane and ≤2.1° for the coronal plane in estimation of the trunk posture change during trunk movements. The measurements of the system and the motion analysis system was highly correlated (>0.999 for dynamic calibration and >0.829 for estimation of spinal curvature change in domain planes of movement during flexion and lateral bending). With the sensing modules located on the upper trunk, mid-trunk and the pelvic

Trunk posture monitoring with inertial sensors.

PubMed

Wong, Wai Yin; Wong, Man Sang

2008-05-01

Measurement of human posture and movement is an important area of research in the bioengineering and rehabilitation fields. Various attempts have been initiated for different clinical application goals, such as diagnosis of pathological posture and movements, assessment of pre- and post-treatment efficacy and comparison of different treatment protocols. Image-based methods for measurements of human posture and movements have been developed, such as the radiography, photogrammetry, optoelectric technique and video analysis. However, it is found that these methods are complicated to set up, time-consuming to operate and could only be applied in laboratory environments. This study introduced a method of using a posture monitoring system in estimating the spinal curvature changes during trunk movements on the sagittal and coronal planes and providing trunk posture monitoring during daily activities. The system consisted of three sensor modules, each with one tri-axial accelerometer and three uni-axial gyroscopes orthogonally aligned, and a digital data acquisition and feedback system. The accuracy of this system was tested with a motion analysis system (Vicon 370) in calibration with experimental setup and in trunk posture measurement with nine human subjects, and the performance of the posture monitoring system during daily activities with two human subjects was reported. The averaged root mean squared differences between the measurements of the system and motion analysis system were found to be < 1.5 degrees in dynamic calibration, and < 3.1 degrees for the sagittal plane and < or = 2.1 degrees for the coronal plane in estimation of the trunk posture change during trunk movements. The measurements of the system and the motion analysis system was highly correlated (> 0.999 for dynamic calibration and > 0.829 for estimation of spinal curvature change in domain planes of movement during flexion and lateral bending). With the sensing modules located on the upper trunk

Common pathophysiological mechanisms involved in luteal phase deficiency and polycystic ovary syndrome. Impact on fertility.

PubMed

Boutzios, Georgios; Karalaki, Maria; Zapanti, Evangelia

2013-04-01

Luteal phase deficiency (LPD) is a consequence of the corpus luteum (CL) inability to produce and preserve adequate levels of progesterone. This is clinically manifested by short menstrual cycles and infertility. Abnormal follicular development, defects in neo-angiogenesis or inadequate steroidogenesis in the lutein cells of the CL have been implicated in CL dysfunction and LPD. LPD and polycystic ovary syndrome (PCOS) are independent disorders sharing common pathophysiological profiles. Factors such as hyperinsulinemia, AMH excess, and defects in angiogenesis of CL are at the origin of both LPD and PCOS. In PCOS ovulatory cycles, infertility could result from dysfunctional CL. The aim of this review was to investigate common mechanisms of infertility in CL dysfunction and PCOS.

Dressing up posture: The interactive effects of posture and clothing on competency judgements.

PubMed

Gurney, Daniel J; Howlett, Neil; Pine, Karen; Tracey, Megan; Moggridge, Rachel

2017-05-01

Individuals often receive judgements from others based on their clothing and their posture. While both of these factors have been found to influence judgements of competency independently, their relative importance in impression formation is yet to be investigated. We address this by examining interactive effects of posture and clothing on four competency measures: confidence, professionalism, approachability, and likeliness of a high salary. Participants rated photographs of both male and female models pictured in different postures (strong, neutral, weak) in smart clothing (a suit for males; both a trouser suit and skirt suit for females) and casual clothing. We confirm that posture manipulations affected judgements of individuals differently according to the clothing they were pictured in. The nature of these interactions varied by gender and, for women, competency judgements differed according to attire type (trouser or skirt suit). The implications of these findings in relation to impression formation are discussed. © 2016 The British Psychological Society.

The involvement of musculoskeletal system and its influence on postural stability in children and young adults with cystic fibrosis.

PubMed

Kenis-Coskun, Ozge; Karadag-Saygi, Evrim; Bahar-Ozdemir, Yeliz; Gokdemir, Yasemin; Karadag, Bulent; Kayhan, Onder

2017-11-21

Cystic fibrosis (CF) affects the musculoskeletal system via a multifactorial pathway that includes vitamin D deficiency and involvement of respiratory muscles such as intercostals due to recurrent upper and lower respiratory tract infections. Eventual result is the deterioration of musculoskeletal health and posture in CF patients. Postural stability is directly affected by posture and can be compromised in every musculoskeletal problem. The aim of this study is to evaluate musculoskeletal system and postural stability in patients with CF. Patients with CF over six years of age and age and sex-matched control groups were included in the study. Cobb angle and thoracic kyphosis angles were measured on the spine radiographs. Both patients and control group were examined with pediatric gait, arms, legs and spine scale (pGALS). They also were evaluated with a NeuroCom Balance Master for their postural stability. Fifty-one patients with CF and 94 healthy controls participated in the study. In results of the pGALS examination, CF group had significantly more pathological findings than the control group in lower extremity appearance and movement (p = 0.006 and p = 0.01) and spine appearance and movement (p = 0.001 and p = 0.022) domains. The tandem walking speed was significantly higher in controls with a mean of 24.45 ± 7.79 while it was 20.47 ± 6.95 in the CF group (p = 0.03). Various limits of stability parameters also showed significant differences. Medium correlations were found between musculoskeletal examination and postural stability parameters. In patients with CF, a systematic but simple musculoskeletal examination can detect pathologies, which are more frequent than the normal population. These pathologies show a medium correlation with the involvement of postural stability.

Kinematics of the human mandible for different head postures.

PubMed

Visscher, C M; Huddleston Slater, J J; Lobbezoo, F; Naeije, M

2000-04-01

The influence of head posture on movement paths of the incisal point (IP) and of the mandibular condyles during free open-close movements was studied. Ten persons, without craniomandibular or cervical spine disorders, participated in the study. Open close mandibular movements were recorded with the head in five postures, viz., natural head posture, forward head posture, military posture, and lateroflexion to the right and to the left side, using the Oral Kinesiologic Analysis System (OKAS-3D). This study showed that in a military head posture, the opening movement path of the incisal point is shifted anteriorly relative to the path in a natural head posture. In a forward head posture, the movement path is shifted posteriorly whereas during lateroflexion, it deviates to the side the head has moved to. Moreover, the intra-articular distance in the temporomandibular joint during closing is smaller with the head in military posture and greater in forward head posture, as compared to the natural head posture. During lateroflexion, the intra-articular distance on the ipsilateral side is smaller. The influence of head posture upon the kinematics of the mandible is probably a manifestation of differences in mandibular loading in the different head postures.

The Relationship Between Postural and Movement Stability.

PubMed

Feldman, Anatol G

2016-01-01

Postural stabilization is provided by stretch reflexes, intermuscular reflexes, and intrinsic muscle properties. Taken together, these posture-stabilizing mechanisms resist deflections from the posture at which balance of muscle and external forces is maintained. Empirical findings suggest that for each muscle, these mechanisms become functional at a specific, spatial threshold-the muscle length or respective joint angle at which motor units begin to be recruited. Empirical data suggest that spinal and supraspinal centers can shift the spatial thresholds for a group of muscles that stabilized the initial posture. As a consequence, the same stabilizing mechanisms, instead of resisting motion from the initial posture, drive the body to another stable posture. In other words by shifting spatial thresholds, the nervous system converts movement resisting to movement-producing mechanisms. It is illustrated that, contrary to conventional view, this control strategy allows the system to transfer body balance to produce locomotion and other actions without loosing stability at any point of them. It also helps orient posture and movement with the direction of gravity. It is concluded that postural and movement stability is provided by a common mechanism.

Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

PubMed

Alexander, Thomas B; McGee, Rose B; Kaye, Erica C; McCarville, Mary Beth; Choi, John K; Cavender, Cary P; Nichols, Kim E; Sandlund, John T

2016-08-01

Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. © 2016 Wiley Periodicals, Inc.

Fit to play: posture and seating position analysis with professional musicians - a study protocol.

PubMed

Ohlendorf, Daniela; Wanke, Eileen M; Filmann, Natalie; Groneberg, David A; Gerber, Alexander

2017-01-01

Musical performance-associated musculoskeletal disorders (MSD) are a common health problem among professional musicians. Considering the manifold consequences arising for the musicians, they can be seen as a threat for their professional activity. String players are the most affected group of musicians in this matter. Faults in upper body posture while playing the instrument, causing un-ergonomic static strain on the back and unergonomic limp-movements, are a main reason for musculoskeletal disorders and pain syndromes. A total of 66 professional musicians, divided into three groups, are measured. The division is performed by average duration of performance, intensity of daily exercise and professional experience. Video raster stereography, a three-dimensional analysis of the body posture, is used to analyse the instrument-specific posture. Furthermore the pressure distribution during seating is analysed. Measurements are performed because the musician is sitting on varying music chairs differing in structure and/or construction of the seating surface. The measurements take place in habitual seating position as well as during playing the instrument. To analyse the influence of different chairs, ANOVA for repeated measurements or Friedman-test is used, depending on normality assumptions. Comparison of posture between amateur musicians, students, and professional orchestral musicians is carried out the non-parametric Jonckheere-Terpstra-test. Our method attempts to give the musicians indications for the right music chair choice by analyzing the chair concepts, so that thereby preemptively MSD can be reduced or prevented.

Spherical Lenses and Prisms Lead to Postural Instability in Both Dyslexic and Non Dyslexic Adolescents

PubMed Central

Kapoula, Zoi; Gaertner, Chrystal; Matheron, Eric

2012-01-01

There is controversy as to whether dyslexic children present systematic postural deficiency. Clinicians use a combination of ophthalmic prisms and proprioceptive soles to improve postural performances. This study examines the effects of convergent prisms and spherical lenses on posture. Fourteen dyslexics (13–17 years-old) and 11 non dyslexics (13–16 years-old) participated in the study. Quiet stance posturography was performed with the TechnoConcept device while subjects fixated a target at eye-level from a distance of 1_m. Four conditions were run: normal viewing; viewing the target with spherical lenses of −1 diopter (ACCOM1) over each eye; viewing with −3 diopters over each eye (ACCOM3); viewing with a convergent prism of 8 diopters per eye. Relative to normal viewing, the −1 lenses increased the surface of body sway significantly whereas the −3 diopter lenses only resulted in a significant increase of antero-posterior body sway. Thus, adolescents would appear to cope more effectively with stronger conflicts rather than subtle ones. The prism condition resulted in a significant increase in both the surface and the antero-posterior body sway. Importantly, all of these effects were similar for the two groups. Wavelet analysis (time frequency domain) revealed high spectral power of antero-posterior sway for the prism condition in both groups. In the ACCOM3 condition, the spectral power of antero-posterior sway decreased for non dyslexics but increased for dyslexics suggesting that dyslexics encounter more difficulty with accommodation. The cancelling time for medium range frequency (believed to be controlled by the cerebellum), was shorter in dyslexics, suggesting fewer instances of optimal control. We conclude that dyslexics achieve similar postural performances albeit less efficiently. Prisms and lenses destabilize posture for all teenagers. Thus, contrary to adults, adolescents do not seem to use efferent, proprioceptive ocular motor signals to

IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function.

PubMed

Scheinowitz, Mickey; Feinberg, Micha S; Laron, Zvi

2009-06-01

Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. We assessed cardiac dimensions and function in very young patients with Laron syndrome (LS) undergoing IGF-I replacement therapy. Two to seven echocardiographic measurements were performed during IGF-I replacement therapy on male (n=4) and female (n=4) LS -patients, mean+/-SD age of 7.1+/-3.6 years (range 1.6-11.6 years), weight 16.1+/-9.7 kg, and height 89.9+/-18.5 cm. As aged- and gender-matched controls served 44 healthy children, age: 8.7+/-5.5 years, weight: 36.1+/-22.4 kg, and height: 129.7+/-33.1cm. Data of LS patients were normalized to body surface area and compared to the control group as well as nomograms of normal echocardiographic parameters for this age group. Left ventricular diastolic and systolic dimensions (LVDD/ LVSD, mm) and LV mass (gr) were significantly smaller in boys and girls with IGF-I treated LS compared with controls while the shortening fraction (%) and intraventricular septum thickness (mm) were similar. When compared with standard values for this age group, all treated LS patients were within 1 standard deviation of the mean. IGF-I therapy of young patients with Laron syndrome maintain LV dimensions and function within the normal range of aged-matched controls.

Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

PubMed

Ripperger, Tim; Schlegelberger, Brigitte

2016-03-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is one of the rare diseases associated with a high risk of cancer. Causative mutations are found in DNA mismatch repair genes PMS2, MSH6, MSH2 or MLH1 that are well known in the context of Lynch syndrome. CMMRD follows an autosomal recessive inheritance trait and is characterized by childhood brain tumors and hematological malignancies as well as gastrointestinal cancer in the second and third decades of life. There is a high risk of multiple cancers, occurring synchronously and metachronously. In general, the prognosis is poor. About one third of CMMRD patients develop hematological malignancies as primary (sometimes the only) malignancy or as secondary neoplasm. T-cell non-Hodgkin lymphomas, mainly of mediastinal origin, are the most frequent hematological malignancies. Besides malignant diseases, non-neoplastic features are frequently observed, e.g. café-au-lait spots sometimes resembling neurofibromatosis type I, hypopigmented skin lesions, numerous adenomatous polyps, multiple pilomatricomas, or impaired immunoglobulin class switch recombination. Within the present review, we summarize previously published CMMRD patients with at least one hematological malignancy, provide an overview of steps necessary to substantiate the diagnosis of CMMRD, and refer to the recent most relevant literature. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Lethal Effect of CD3-Specific Antibody in Mice Deficient in TGF-β1 by Uncontrolled Flu-Like Syndrome1

PubMed Central

Perruche, Sylvain; Zhang, Pin; Maruyama, Takashi; Bluestone, Jeffrey A.; Saas, Philippe; Chen, WanJun

2010-01-01

CD3-specific Ab therapy results in a transient, self-limiting, cytokine-associated, flu-like syndrome in experimental animals and in patients, but the underlying mechanism for this spontaneous resolution remains elusive. By using an in vivo model of CD3-specific Ab-induced flu-like syndrome, we show in this paper that a single injection of sublethal dose of the Ab killed all TGF-β1−/− mice. The death of TGF-β1−/− mice was associated with occurrence of this uncontrolled flu-like syndrome, as demonstrated by a sustained storm of systemic inflammatory TNF and IFN-γ cytokines. We present evidence that deficiency of professional phagocytes to produce TGF-β1 after apoptotic T cell clearance may be responsible, together with hypersensitivity of T cells to both activation and apoptosis, for the uncontrolled inflammation. These findings indicate a key role for TGF-β1 and phagocytes in protecting the recipients from lethal inflammation and resolving the flu-like syndrome after CD3-specific Ab treatment. The study may also provide a novel molecular mechanism explaining the early death in TGF-β1−/− mice. PMID:19561097

Combined deficiency of vitamins E and C causes paralysis and death in guinea pigs.

PubMed

Hill, Kristina E; Montine, Thomas J; Motley, Amy K; Li, Xia; May, James M; Burk, Raymond F

2003-06-01

On the basis of in vitro studies, the antioxidant nutrients vitamins E and C are postulated to interact in vivo. We developed a guinea pig model to evaluate the combined deficiency of vitamins E and C in vivo. Weanling guinea pigs were fed a control diet or a vitamin E-deficient diet for 14 d, after which one-half of each group had vitamin C removed from their diet, thus creating 4 diet groups. Some animals were observed for clinical signs. Others were killed for evaluation. Of 21 guinea pigs that were observed after being fed the diet deficient in both vitamins, 8 died 9 +/- 2 d (x +/- SD) after starting the diet. Eight additional guinea pigs developed a characteristic syndrome at 11 +/- 3 d. First, they became paralyzed in the hind limbs. Within a few hours, the paralysis progressed to include all 4 limbs and caused difficulty in breathing, which would have caused death had the animals not been euthanized. Histopathologic evaluation did not identify a lesion in the muscles or nervous system that could account for the paralysis. Biochemical measurements confirmed the deficiencies and indicated that the double deficiency caused lipid peroxidation in the central nervous system. A distinct clinical syndrome of combined vitamin E and vitamin C deficiency occurs in guinea pigs. This syndrome indicates that these antioxidant vitamins are related in vivo. We speculate that acute oxidative injury in the central nervous system underlies the clinical syndrome.

Automatic recognition of postural allocations.

PubMed

Sazonov, Edward; Krishnamurthy, Vidya; Makeyev, Oleksandr; Browning, Ray; Schutz, Yves; Hill, James

2007-01-01

A significant part of daily energy expenditure may be attributed to non-exercise activity thermogenesis and exercise activity thermogenesis. Automatic recognition of postural allocations such as standing or sitting can be used in behavioral modification programs aimed at minimizing static postures. In this paper we propose a shoe-based device and related pattern recognition methodology for recognition of postural allocations. Inexpensive technology allows implementation of this methodology as a part of footwear. The experimental results suggest high efficiency and reliability of the proposed approach.

Computer users' postures and associations with workstation characteristics.

PubMed

Gerr, F; Marcus, M; Ortiz, D; White, B; Jones, W; Cohen, S; Gentry, E; Edwards, A; Bauer, E

2000-01-01

This investigation tested the hypotheses that (1) physical workstation dimensions are important determinants of operator posture, (2) specific workstation characteristics systematically affect worker posture, and (3) computer operators assume "neutral" upper limb postures while keying. Operator head, neck, and upper extremity posture and selected workstation dimensions and characteristics were measured among 379 computer users. Operator postures were measured with manual goniometers, workstation characteristics were evaluated by observation, and workstation dimensions by direct measurement. Considerably greater variability in all postures was observed than was expected from application of basic geometric principles to measured workstation dimensions. Few strong correlations were observed between worker posture and workstation physical dimensions; findings suggest that preference is given to keyboard placement with respect to the eyes (r = 0.60 for association between keyboard height and seated elbow height) compared with monitor placement with respect to the eyes (r = 0.18 for association between monitor height and seated eye height). Wrist extension was weakly correlated with keyboard height (r = -0.24) and virtually not at all with keyboard thickness (r = 0.07). Use of a wrist rest was associated with decreased wrist flexion (21.9 versus 25.1 degrees, p < 0.01). Participants who had easily adjustable chairs had essentially the same neck and upper limb postures as did those with nonadjustable chairs. Sixty-one percent of computer operators were observed in nonneutral shoulder postures and 41% in nonneutral wrist postures. Findings suggest that (1) workstation dimensions are not strong determinants of at least several neck and upper extremity postures among computer operators, (2) only some workstation characteristics affect posture, and (3) contrary to common recommendations, a large proportion of computer users do not work in so-called neutral postures.

The Prone Protected Posture

DTIC Science & Technology

1980-08-01

5K 2. METHODOLOGY . . . . . . . . . . . . . . . . . . . . 5 3. RESULTS . . . . . . . . . . . . . . . . . . . . . . 23I 4...2. METHODOLOGY The first step required in this study was to characterize the prone protected posture. Basically, a man in the prone posture differs...reduction in the presented area of target personnel. Reference 6 contains a concise discussion of the methodology used to generate the shielding functions

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

PubMed Central

Gan, Shi-Rui; Wang, Jie; Figueroa, Karla P.; Pulst, Stefan M.; Tomishon, Darya; Lee, Danielle; Perlman, Susan; Wilmot, George; Gomez, Christopher M.; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Kuo, Sheng-Han

2017-01-01

Background Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. Methods We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Results Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8%; SCA2, 27.5%; SCA3, 12.4%; SCA6, 16.9%; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = –0.91, p < 0.001; SCA6, β = –1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β = 1.54, p = 0.034). We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = –1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = –0.40, p = 0.032). Discussion Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor. PMID:29057148

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.

PubMed

Gan, Shi-Rui; Wang, Jie; Figueroa, Karla P; Pulst, Stefan M; Tomishon, Darya; Lee, Danielle; Perlman, Susan; Wilmot, George; Gomez, Christopher M; Schmahmann, Jeremy; Paulson, Henry; Shakkottai, Vikram G; Ying, Sarah H; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D; Xia, Guangbin; Subramony, S H; Ashizawa, Tetsuo; Kuo, Sheng-Han

2017-01-01

Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ataxia progression is not known. We studied postural tremor in 315 patients with SCA1, 2, 3, and 6 recruited from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists of 12 participating centers in the United States, and we evaluated ataxia progression in these patients from January 2010 to August 2012. Among 315 SCA patients, postural tremor was most common in SCA2 patients (SCA1, 5.8%; SCA2, 27.5%; SCA3, 12.4%; SCA6, 16.9%; p = 0.007). SCA3 patients with postural tremor had longer CAG repeat expansions than SCA3 patients without postural tremor (73.67 ± 3.12 vs. 70.42 ± 3.96, p = 0.003). Interestingly, SCA1 and SCA6 patients with postural tremor had a slower rate of ataxia progression (SCA1, β = -0.91, p < 0.001; SCA6, β = -1.28, p = 0.025), while SCA2 patients with postural tremor had a faster rate of ataxia progression (β = 1.54, p = 0.034). We also found that the presence of postural tremor in SCA2 patients could be influenced by repeat expansions of ATXN1 (β = -1.53, p = 0.037) and ATXN3 (β = 0.57, p = 0.018), whereas postural tremor in SCA3 was associated with repeat lengths in TBP (β = 0.63, p = 0.041) and PPP2R2B (β = -0.40, p = 0.032). Postural tremor could be a clinical feature of SCAs, and the presence of postural tremor could be associated with different rates of ataxia progression. Genetic interactions between ataxia genes might influence the brain circuitry and thus affect the clinical presentation of postural tremor.

[Comparative analysis on the biological basis of blood stasis syndrome induced by qi-stagnation and qi-deficiency in patients with unstable angina pectoris].

PubMed

Ren, Jian-xun; Liu, Jian-xun; Lin, Cheng-ren

2010-04-01

To comparatively analyse the objective characteristics of different syndrome types of qi-disturbance-induced blood stasis syndrome (QDBS) in the pathogenetic evolution of unstable angina coronary heart disease (UA-CHD). Seventy-eight patients with UA-CHD of QDBS were differentiated into 2 groups: 55 in the qi-deficiency-induced blood-stasis syndrome group (A) and 23 in the qi-stagnation-induced blood-stasis syndrome group (B). The comparative analysis on them was carried out through comparing their blood pressure, glucose and lipid metabolisms, coagulation function, thyroid function and inflammation reaction changes, etc. In the pathogenetic process of qi-disturbance induced blood stasis, the initiating age, levels of HbA1c, TSH, PT and APTT between the two groups were significantly different (P < 0.05). Levels of TNF-alpha and LN were higher and levels of sIgA lower in patients than those in healthy subjects (P < 0.05). Inflammation immune reaction may play an important role in the pathogenetic process of blood-stasis syndrome, and the functional disturbance of hypothalamus, pituitary and endocrinal secretion induced by emotional stress is possibly the essence of qi-stagnation induced blood stasis syndrome.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

PubMed

Demirdas, S; Dulfer, E; Robert, L; Kempers, M; van Beek, D; Micha, D; van Engelen, B G; Hamel, B; Schalkwijk, J; Loeys, B; Maugeri, A; Voermans, N C

2017-03-01

The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Included were 17 patients of 11 families with autosomal recessive inheritance and childhood onset. All patients had hyperextensible skin without atrophic scarring. Hypermobility of the joints was observed in 16 of 17 patients. Deformities of the hands and feet were observed frequently. TNX serum level was tested and absent in 11 patients (seven families). Genetic testing was performed in all families; 12 different mutations were detected, most of which are suspected to lead to non-sense mRNA mediated decay. In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Potentially risky postural behaviors during worksite keyboard use

PubMed Central

Baker, Nancy A.; Redfern, Mark

2016-01-01

Objective This study describes the frequency and distribution of potentially risky postural behaviors of keyboard users. Method Forty-three subjects’ keyboard postural behaviors were rated with the Keyboard – Personal Computer Style instrument (K-PeCS) while they worked at their own workstations. The frequency and distribution of keyboard postural behaviors, and the associations and differences between the right and left sides were assessed. Results Generally, each static body posture had a single criterion that occurred most frequently, (e.g. elbow flexion posture 80 – 120 degrees), while dynamic postures of the wrists and hands were distributed throughout their criteria. Right and left side postural behaviors were significantly associated for shoulder flexion, elbow flexion, hand displacement, wrist extension, forearm rotation, isolated 5th digit, MCP hyperextension, and wrist support use, and significantly different for hand displacement, isolated thumb, number of digits used, and MCP hyperextension. Conclusion Potentially problematic keyboard postural behaviors are common among keyboard users. Our results suggest that occupational therapists must systematically assess body, arm, wrist, and hand postures on both the right and left sides to be able to develop the most effective intervention strategies. PMID:19708467

Postural tachycardia syndrome and inappropriate sinus tachycardia: role of autonomic modulation and sinus node automaticity.

PubMed

Nwazue, Victor C; Paranjape, Sachin Y; Black, Bonnie K; Biaggioni, Italo; Diedrich, André; Dupont, William D; Robertson, David; Raj, Satish R

2014-04-10

Inappropriate sinus tachycardia (IST) and postural tachycardia syndrome (POTS) are 2 disorders characterized by sinus tachycardia. It is debated whether the pathophysiology of IST and POTS results from abnormal autonomic regulation or abnormal sinus node function. We hypothesized that intrinsic heart rate (IHR) after autonomic blockade would be increased in patients with IST but not POTS. We enrolled 48 POTS patients, 8 IST patients, and 17 healthy control (HC) subjects. Intravenous propranolol and atropine were given to block the sympathetic and parasympathetic limbs of the autonomic nervous system in order to determine the IHR. Patients with IST have a higher sympathetic contribution to heart rate when compared with POTS patients (31±13 bpm versus 12±7 bpm, P<0.001) and HC (8±4 bpm; P<0.001) and a trend to less parasympathetic contribution than POTS and HC (IST: 31±11 bpm versus POTS: 46±11 bpm versus HC: 48±11 bpm, ANOVA P=0.108). IHR was not significantly different between IST and either POTS or HC (IST: 111±11 bpm versus POTS: 108±11 bpm versus HC: 106±12 bpm, ANOVA P=0.237). IST patients have more sympathetic tone when compared with either POTS or HC, but IST patients do not have abnormal sinus node automaticity. These data suggest that the treatment of IST and POTS should focus on sympatholysis, reserving sinus node modification for patients with continued debilitating symptoms after beta-blockade and possibly ivabradine. http://clinicaltrials.gov/. Unique identifier: NCT00262470.

Postural Stability is Altered by Blood Shift

NASA Astrophysics Data System (ADS)

Marais, M.; Denise, P.; Guincetre, J. Y.; Normand, H.

2008-06-01

Non-vestibular influences as shift in blood volume changed perception of body posture. Then, factors affecting blood shift may alter postural control. The purpose of our study was to investigate the effects of leg venous contention on postural stability. Twelve subjects were studied on a balance plate for 5 minutes with the eyes closed, in 3 conditions: with no leg venous contention or grade 1 and 3 support stockings. Standard deviation of x and y position was calculated before and after the closure of the eyes. Strong venous contention altered postural stability, after the eyes were closed, during the first 10 s of standing. As support stockings prevent blood shift induced by upright posture, this result is in line with the hypothesis that blood shifts influence the perception of body orientation and postural control among others factors as vision, vestibular inputs... This strong venous contention could induce an increase of fall.

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

PubMed

Wada, Takahito; Shimbo, Hiroko; Osaka, Hitoshi

2012-08-01

Cerebral creatine deficiency syndromes (CCDS) are caused by genetic defects in L-arginine:glycine amidinotransferase, guanidinoacetate methyltransferase or creatine transporter 1. CCDS are characterized by abnormal concentrations of urinary creatine (CR), guanidinoacetic acid (GA), or creatinine (CN). In this study, we describe a simple HPLC method to determine the concentrations of CR, GA, and CN using a weak-acid ion chromatography column with a UV detector without any derivatization. CR, GA, and CN were separated clearly with the retention times (mean ± SD, n = 3) of 5.54 ± 0.0035 min for CR, 6.41 ± 0.0079 min for GA, and 13.53 ± 0.046 min for CN. This new method should provide a simple screening test for the diagnosis of CCDS.

Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice

PubMed Central

Pardo, Marta; Cheng, Yuyan; Velmeshev, Dmitry; Magistri, Marco; Martinez, Ana; Faghihi, Mohammad A.; Jope, Richard S.; Beurel, Eleonore

2017-01-01

Molecular mechanisms underlying learning and memory remain imprecisely understood, and restorative interventions are lacking. We report that intranasal administration of siRNAs can be used to identify targets important in cognitive processes and to improve genetically impaired learning and memory. In mice modeling the intellectual deficiency of Fragile X syndrome, intranasally administered siRNA targeting glycogen synthase kinase-3β (GSK3β), histone deacetylase-1 (HDAC1), HDAC2, or HDAC3 diminished cognitive impairments. In WT mice, intranasally administered brain-derived neurotrophic factor (BDNF) siRNA or HDAC4 siRNA impaired learning and memory, which was partially due to reduced insulin-like growth factor-2 (IGF2) levels because the BDNF siRNA– or HDAC4 siRNA–induced cognitive impairments were ameliorated by intranasal IGF2 administration. In Fmr1–/– mice, hippocampal IGF2 was deficient, and learning and memory impairments were ameliorated by IGF2 intranasal administration. Therefore intranasal siRNA administration is an effective means to identify mechanisms regulating cognition and to modulate therapeutic targets. PMID:28352664

Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice.

PubMed

Pardo, Marta; Cheng, Yuyan; Velmeshev, Dmitry; Magistri, Marco; Eldar-Finkelman, Hagit; Martinez, Ana; Faghihi, Mohammad A; Jope, Richard S; Beurel, Eleonore

2017-03-23

Molecular mechanisms underlying learning and memory remain imprecisely understood, and restorative interventions are lacking. We report that intranasal administration of siRNAs can be used to identify targets important in cognitive processes and to improve genetically impaired learning and memory. In mice modeling the intellectual deficiency of Fragile X syndrome, intranasally administered siRNA targeting glycogen synthase kinase-3β (GSK3β), histone deacetylase-1 (HDAC1), HDAC2, or HDAC3 diminished cognitive impairments. In WT mice, intranasally administered brain-derived neurotrophic factor (BDNF) siRNA or HDAC4 siRNA impaired learning and memory, which was partially due to reduced insulin-like growth factor-2 (IGF2) levels because the BDNF siRNA- or HDAC4 siRNA-induced cognitive impairments were ameliorated by intranasal IGF2 administration. In Fmr1 -/- mice, hippocampal IGF2 was deficient, and learning and memory impairments were ameliorated by IGF2 intranasal administration. Therefore intranasal siRNA administration is an effective means to identify mechanisms regulating cognition and to modulate therapeutic targets.

Obesity as an Emerging Risk Factor for Iron Deficiency

PubMed Central

Aigner, Elmar; Feldman, Alexandra; Datz, Christian

2014-01-01

Iron homeostasis is affected by obesity and obesity-related insulin resistance in a many-facetted fashion. On one hand, iron deficiency and anemia are frequent findings in subjects with progressed stages of obesity. This phenomenon has been well studied in obese adolescents, women and subjects undergoing bariatric surgery. On the other hand, hyperferritinemia with normal or mildly elevated transferrin saturation is observed in approximately one-third of patients with metabolic syndrome (MetS) or nonalcoholic fatty liver disease (NAFLD). This constellation has been named the “dysmetabolic iron overload syndrome (DIOS)”. Both elevated body iron stores and iron deficiency are detrimental to health and to the course of obesity-related conditions. Iron deficiency and anemia may impair mitochondrial and cellular energy homeostasis and further increase inactivity and fatigue of obese subjects. Obesity-associated inflammation is tightly linked to iron deficiency and involves impaired duodenal iron absorption associated with low expression of duodenal ferroportin (FPN) along with elevated hepcidin concentrations. This review summarizes the current understanding of the dysregulation of iron homeostasis in obesity. PMID:25215659

Obesity as an emerging risk factor for iron deficiency.

PubMed

Aigner, Elmar; Feldman, Alexandra; Datz, Christian

2014-09-11

Iron homeostasis is affected by obesity and obesity-related insulin resistance in a many-facetted fashion. On one hand, iron deficiency and anemia are frequent findings in subjects with progressed stages of obesity. This phenomenon has been well studied in obese adolescents, women and subjects undergoing bariatric surgery. On the other hand, hyperferritinemia with normal or mildly elevated transferrin saturation is observed in approximately one-third of patients with metabolic syndrome (MetS) or nonalcoholic fatty liver disease (NAFLD). This constellation has been named the "dysmetabolic iron overload syndrome (DIOS)". Both elevated body iron stores and iron deficiency are detrimental to health and to the course of obesity-related conditions. Iron deficiency and anemia may impair mitochondrial and cellular energy homeostasis and further increase inactivity and fatigue of obese subjects. Obesity-associated inflammation is tightly linked to iron deficiency and involves impaired duodenal iron absorption associated with low expression of duodenal ferroportin (FPN) along with elevated hepcidin concentrations. This review summarizes the current understanding of the dysregulation of iron homeostasis in obesity.

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.

PubMed

Shaheen, Ranad; Ansari, Shinu; Alshammari, Muneera J; Alkhalidi, Hisham; Alrukban, Hadeel; Eyaid, Wafaa; Alkuraya, Fowzan S

2013-07-01

Numerous syndromic forms of intellectual disability have been described including those with abnormal sweating pattern. To describe the clinical and molecular analysis of a large multiplex consanguineous Saudi family with an unusual constellation of severe intellectual disability, hypohidrosis, abnormal teeth, and acquired microcephaly. Clinical evaluation, autozygosity mapping, exome sequencing, and expression analysis. Autozygosity mapping revealed a single critical locus corresponding to chr13:39 338 062-40 857 430. Exome sequencing uncovered a deep intronic (NM_020751.2:c.1167-24A>G) variant in COG6 that largely replaces the consensus acceptor site, resulting in pronounced reduction of the normal transcript and consequent deficiency of COG6 protein. Patient cells also exhibited pronounced deficiency of STX6, consistent with the established stabilising effect of COG6 on STX6. Four additional patients representing two families of the same tribal origin as the original family were found to have the same mutation, confirming a founder effect. Remarkably, none of the patients displayed any detectable abnormality in the glycosylation pattern of transferrin, which contradicts a previously published report of a patient whose abnormal glycosylation pattern was presumed to be caused by a missense variant in COG6. Our data implicate COG6 in the pathogenesis of a novel hypohidrotic disorder in humans that is distinct from congenital disorders of glycosylation.

Postural control system influences intrinsic alerting state.

PubMed

Barra, Julien; Auclair, Laurent; Charvillat, Agnès; Vidal, Manuel; Pérennou, Dominic

2015-03-01

Numerous studies using dual-task paradigms (postural and cognitive) have shown that postural control requires cognitive resources. However, the influence of postural control on attention components has never been directly addressed. Using the attention network test (ANT), which assesses specifically each of the 3 components of attention-alertness, orientation, and executive control-within a single paradigm, we investigated the effect of postural balance demand on these 3 components. Forty-two participants completed the ANT in 3 postural conditions: (a) supine, a very stable position; (b) sitting on a chair, an intermediate position; and (c) standing with feet lined up heel to toe, a very instable position known as the Romberg position. Our results revealed that the difficulty of postural control does modulate alerting in such a way that it improves with the level of instability of the position. Regarding the orienting and executive control components of attention, performance was not different when participants were standing upright or seated, whereas in the supine position, performance dropped. The strong and specific interaction between postural control and the alerting system suggests that these mechanisms may share parts of the underlying neural circuits. We discuss the possible implication of the locus coeruleus, known to be involved in both postural balance and alerting. Also, our findings concerning orienting and executive control systems suggest that supine posture could have a specific effect on cognitive activities. These effects are discussed in terms of particularities resulting from the supine position. PsycINFO Database Record (c) 2015 APA, all rights reserved.

Head Injury and the Post-Trauma Vision Syndrome.

ERIC Educational Resources Information Center

Padula, William V.; Shapiro, Jannie B.

1993-01-01

This article considers the visual rehabilitation of patients recovering from traumatic brain injuries. Characteristics, symptoms, and associated neuromotor difficulties of posttrauma vision syndrome are listed, as are common posture and gait adaptations. A neuro-optometric rehabilitative and orientation/mobility evaluation is recommended, as is…

The relationship between perceived discomfort of static posture holding and posture holding time.

PubMed

Ogutu, Jack; Park, Woojin

2015-01-01

Few studies have investigated mathematical characteristics of the discomfort-time relationship during prolonged static posture holding (SPH) on an individual basis. Consequently, the discomfort-time relationship is not clearly understood at individual trial level. The objective of this study was to examine discomfort-time sequence data obtained from a large number of maximum-duration SPH trials to understand the perceived discomfort-posture holding time relationship at the individual SPH trial level. Thirty subjects (15 male, 15 female) participated in this study as paid volunteers. The subjects performed maximum-duration SPH trials employing 12 different wholebody static postures. The hand-held load for all the task trials was a ``generic'' box weighing 2 kg. Three mathematical functions, that is, linear, logarithmic and power functions were examined as possible mathematical models for representing individual discomfort-time profiles of SPH trials. Three different time increase patterns (negatively accelerated, linear and positively accelerated) were observed in the discomfort-time sequences data. The power function model with an additive constant term was found to adequately fit most (96.4%) of the observed discomfort-time sequences, and thus, was recommended as a general mathematical representation of the perceived discomfort-posture holding time relationship in SPH. The new knowledge on the nature of the discomfort-time relationship in SPH and the power function representation found in this study will facilitate analyzing discomfort-time data of SPH and developing future posture analysis tools for work-related discomfort control.

Functional Neuroanatomy for Posture and Gait Control

PubMed Central

Takakusaki, Kaoru

2017-01-01

Here we argue functional neuroanatomy for posture-gait control. Multi-sensory information such as somatosensory, visual and vestibular sensation act on various areas of the brain so that adaptable posture-gait control can be achieved. Automatic process of gait, which is steady-state stepping movements associating with postural reflexes including headeye coordination accompanied by appropriate alignment of body segments and optimal level of postural muscle tone, is mediated by the descending pathways from the brainstem to the spinal cord. Particularly, reticulospinal pathways arising from the lateral part of the mesopontine tegmentum and spinal locomotor network contribute to this process. On the other hand, walking in unfamiliar circumstance requires cognitive process of postural control, which depends on knowledges of self-body, such as body schema and body motion in space. The cognitive information is produced at the temporoparietal association cortex, and is fundamental to sustention of vertical posture and construction of motor programs. The programs in the motor cortical areas run to execute anticipatory postural adjustment that is optimal for achievement of goal-directed movements. The basal ganglia and cerebellum may affect both the automatic and cognitive processes of posturegait control through reciprocal connections with the brainstem and cerebral cortex, respectively. Consequently, impairments in cognitive function by damages in the cerebral cortex, basal ganglia and cerebellum may disturb posture-gait control, resulting in falling. PMID:28122432

Recovery of postural equilibrium control following spaceflight

NASA Technical Reports Server (NTRS)

Paloski, W. H.; Reschke, M. F.; Black, F. O.; Doxey, D. D.; Harm, D. L.

1992-01-01

Decreased postural stability is observed in most astronauts immediately following spaceflight. Because ataxia may present postflight operational hazards, it is important to determine the incidence of postural instability immediately following landing and the dynamics of recovery of normal postural equilibrium control. It is postulated that postflight postural instability results from in-flight adaptive changes in central nervous system (CNS) processing of sensory information from the visual, vestibular, and proprioceptive systems. The purpose of the present investigation was to determine the magnitude and time course of postflight recovery of postural equilibrium control and, hence, readaptation of CNS processing of sensory information. Thirteen crew members from six spaceflight missions were studied pre- and postflight using a modified commercial posturography system. Postural equilibrium control was found to be seriously disrupted immediately following spaceflight in all subjects. Readaptation to the terrestrial environment began immediately upon landing, proceeded rapidly for the first 10-12 hours, and then proceeded much more slowly for the subsequent 2-4 days until preflight stability levels were reachieved. It is concluded that the overall postflight recovery of postural stability follows a predictable time course.

Deleterious Effects of Chronic Folate Deficiency in the Ts65Dn Mouse Model of Down Syndrome

PubMed Central

Helm, Susan; Blayney, Morgan; Whited, Taylor; Noroozi, Mahjabin; Lin, Sen; Kern, Semira; Green, David; Salehi, Ahmad

2017-01-01

Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS. To test this, adult Ts65Dn mice and their disomic littermates were chronically fed a diet free of folic acid while preventing endogenous production of folate in the digestive tract for a period of 8 weeks. Our results show that the Ts65Dn mouse model of DS was significantly more vulnerable to CFD in terms of plasma homocysteine and N5-methyltetrahydrofolate (5-MTHF) levels. Importantly, these changes were linked to degenerative alterations in hippocampal dendritic morphology and impaired nest building behavior in Ts65Dn mice. Based on our results, a rigorous examination of folate intake and its metabolism in individuals with DS is warranted. PMID:28649192

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

PubMed Central

Lee, Sang Soo; Han, A-Leum; Ahn, Moon Bae; Kim, Shin Hee; Cho, Kyoung Soon; Park, So Hyun; Jung, Min Ho; Suh, Byung-Kyu

2017-01-01

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD. PMID:28443260

Postural Stability of Patients with Schizophrenia during Challenging Sensory Conditions: Implication of Sensory Integration for Postural Control.

PubMed

Teng, Ya-Ling; Chen, Chiung-Ling; Lou, Shu-Zon; Wang, Wei-Tsan; Wu, Jui-Yen; Ma, Hui-Ing; Chen, Vincent Chin-Hung

2016-01-01

Postural dysfunctions are prevalent in patients with schizophrenia and affect their daily life and ability to work. In addition, sensory functions and sensory integration that are crucial for postural control are also compromised. This study intended to examine how patients with schizophrenia coordinate multiple sensory systems to maintain postural stability in dynamic sensory conditions. Twenty-nine patients with schizophrenia and 32 control subjects were recruited. Postural stability of the participants was examined in six sensory conditions of different level of congruency of multiple sensory information, which was based on combinations of correct, removed, or conflicting sensory inputs from visual, somatosensory, and vestibular systems. The excursion of the center of pressure was measured by posturography. Equilibrium scores were derived to indicate the range of anterior-posterior (AP) postural sway, and sensory ratios were calculated to explore ability to use sensory information to maintain balance. The overall AP postural sway was significantly larger for patients with schizophrenia compared to the controls [patients (69.62±8.99); controls (76.53±7.47); t1,59 = -3.28, p<0.001]. The results of mixed-model ANOVAs showed a significant interaction between the group and sensory conditions [F5,295 = 5.55, p<0.001]. Further analysis indicated that AP postural sway was significantly larger for patients compared to the controls in conditions containing unreliable somatosensory information either with visual deprivation or with conflicting visual information. Sensory ratios were not significantly different between groups, although small and non-significant difference in inefficiency to utilize vestibular information was also noted. No significant correlations were found between postural stability and clinical characteristics. To sum up, patients with schizophrenia showed increased postural sway and a higher rate of falls during challenging sensory conditions, which

Can patent foramen ovale affect rehabilitation? The uncommon association of platypnea-orthodeoxia syndrome and stroke.

PubMed

Gallerini, S; Calchetti, B; Cianchi, C; Di Troia, A M; Madonna, R; Cresti, A; Mancuso, M

2011-06-01

Platypnea-orthodeoxia is a rare syndrome characterized by dyspnea and deoxygenation induced by a change to a sitting or standing from a recumbent position. It is the result of posturally accentuated intracardiac or pulmonary right-to-left shunt leading to arterial oxygen desaturation. Only few cases of platypnea-orthodeoxia syndrome are reported in the literature and the association between stroke and platypnea-orthodeoxia syndrome with evidence of patent foramen ovale is extremely rare. We describe the case of a 67-year-old female admitted to our Rehabilitation Unit for disabling basilar stroke due to paradoxical embolism from patent foramen ovale that during the first days of rehabilitation showed signs and symptoms of platypnea-orthodeoxia syndrome. To remove a life-threatening condition for the patient and in order to develop the normal rehabilitation project, that was stopped by the platypnea-orthodeoxia syndrome, the patient fastly underwent to percutaneous closure of patent foramen ovale. The stabilization of oxygen arterial saturation with postural changes and the disappearance of symptoms of POS allowed to develop the rehabilitation project with progressive neurological improvement.

Development of Postural Muscles and Their Innervation

PubMed Central

IJkema-Paassen, J.; Gramsbergen, A.

2005-01-01

Control of posture is a prerequisite for efficient motor performance. Posture depends on muscles capable of enduring contractions, whereas movements often require quick, forceful muscle actions. To serve these different goals, muscles contain fibers that meet these different tasks. Muscles with strong postural functions mainly consist of slow muscle fibers with a great resistance against fatigue. Flexor muscles in the leg and arm muscles are mainly composed of fast muscle fibers producing relatively large forces that are rapidly fatigable. Development of the neuromuscular system continues after birth. We discuss in the human baby and in animal experiments changes in muscle fiber properties, regression from polyneural into mononeural innervation, and developmental changes in the motoneurons of postural muscles during that period. The regression of poly-neural innervation in postural muscles and the development of dendrite bundles of their motoneurons seem to be linked to the transition from the immature into the adult-like patterns of moving and postural control. PMID:16097482

[Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

PubMed

Feng, Yu; Gao, Yue-Ping

2014-05-01

Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

PubMed

Vilboux, Thierry; Malicdan, May Christine V; Roney, Joseph C; Cullinane, Andrew R; Stephen, Joshi; Yildirimli, Deniz; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Steinbach, Peter J; Gahl, William A; Gunay-Aygun, Meral

2017-03-01

Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

[Traditional Chinese medicine syndrome factors of patients with HIV infection or AIDS in China].

PubMed

Jiang, Feng; Fu, Lin-chun; Ma, Jian-ping; Zhou, Qing; Peng, Bo; Xie, Shi-ping; Guo, Hui-jun; Dong, Yong-xin; Ma, Xiu-lan; Guo, Xuan-xian; Xie, Zhong-li; Hu, Yan-ping; Li, Qing-ya; Li, Hua-wei; Jin, Yan-tao

2011-09-01

To study the characteristics of traditional Chinese medicine (TCM) syndrome factors of patients from different areas of China with human immunodeficiency virus (HIV) infection or acquired immunodeficiency syndrome (AIDS). A cross-sectional investigation study was conducted in Henan, Guangdong and Yunnan Provinces and Xinjiang Uygur Autonomous Region of China from October 2008 to August 2010. Based on literature review and expert opinion, a clinical questionnaire of TCM syndromes was drawn up. This survey was carried out after the investigators were professionally trained. Wenfeng III Auxiliary Diagnosis and Treat System of TCM was used to analyze the frequencies of AIDS patients' signs and symptoms with scores above 70 of syndrome factors respectively. Based on this work, syndrome factors of AIDS were analyzed in different areas. There were 608 HIV/AIDS cases investigated from October 2008 to August 2010 in total; among them, 276 cases were from Henan, 126 cases from Guangdong, 120 cases from Xinjiang and 86 cases from Yunnan. The results of syndrome factor analysis indicated that the syndromes of four provinces were similar. HIV/AIDS patients in the four areas exhibited qi deficiency, blood deficiency, yin deficiency, yang deficiency, dampness, phlegm, qi stagnation and essence deficiency syndromes. Patients in each area also had their own characteristics, such as that the scores of dampness of Guangdong and yin deficiency of Xinjiang were higher than the other syndromes, whereas the scores of Henan Province were higher than the other areas. AIDS patients had higher scores of syndromes than HIV-infected patients. HIV/AIDS patients from different areas had similar syndrome elements. The theory of "AIDS toxin injuring primordial qi" can sum up the TCM etiology and pathogenesis of HIV/AIDS.

Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency.

PubMed

Tamagawa, Eri; Inaba, Hidefumi; Ota, Takayuki; Ariyasu, Hiroyuki; Kawashima, Hiromichi; Wakasaki, Hisao; Furuta, Hiroto; Nishi, Masahiro; Nakao, Taisei; Kaito, Hiroshi; Iijima, Kazumoto; Nakanishi, Koichi; Yoshikawa, Norishige; Akamizu, Takashi

2014-01-01

Bartter syndrome (BS) is a disorder with normotensive hypokalemic alkalosis and hyperreninemic hyperaldosteronemia. BS affects infants or early childhood. Patients with BS type 3 harbor mutation in CLCNKB, Cl channel Kb. Gitelman syndrome (GS) is a disorder in childhood, with mutation in SLC12A3. Isolated adrenocorticotropin deficiency (IAD) causes secondary adrenal insufficiency. Neither elderly cases, nor cases with IAD were previously reported in BS. A 72-year-old man was admitted with acute adrenal crisis. He had been treated for IAD for 19 years. He had no trouble during perinatal period, delivery, and growth. After the recovery from adrenal crisis, laboratory tests revealed hypokalemia; 3.0 mEq/L (normal: 3.5-4.5), impaired renal function: eGFR; 37.6 mL/min/1.73 m2, normomagnesemia; 2.1 mg/dL (1.7-2.3), hyperreninemia; 59.4 ng/mL/h (0.2-2.7), hyperaldosteronemia; 23.5 ng/dL (3.0-15.9), and normal urinary ratio of calcium/creatinine. In diuretic tests, he showed a fine response to furosemide, and a mild response to thiazide. In genetic tests, no mutation of SLC12A3 was found and homozygous mutation: c.1830 G > A in CLCNKB was shown. Thus he was diagnosed as BS type 3. Current case presented with unusual features as BS type 3, 1) his late and mild clinical manifestation suggested GS rather than BS, 2) laboratory data and diuretics tests did not show typical features as BS, and 3) IAD and chronic renal failure altered electrolyte metabolism. In conclusion, current case implies that BS type 3 should be considered even in elderly cases with normotensive hypokalemia, and highlights importance of endocrinological and genetic examinations.

Vitamin D deficiency is associated with type 2 diabetes mellitus in HIV infection.

PubMed

Szep, Zsofia; Guaraldi, Giovanni; Shah, Samir S; Lo Re, Vincent; Ratcliffe, Sarah J; Orlando, Gabriella; Carli, Federica; Rossi, Rosario; Rochira, Vincenzo; Tebas, Pablo

2011-02-20

Metabolic complications, including type 2 diabetes mellitus and metabolic syndrome, are increasingly recognized among HIV-infected individuals. Low vitamin D levels increase the risk of type 2 diabetes mellitus, and vitamin D supplementation has been shown to decrease the risk of type 2 diabetes mellitus in patients without HIV infection. The primary objective was to determine whether vitamin D deficiency (serum 25-hyrdoxyvitamin D <20 ng/ml) was associated with type 2 diabetes mellitus among HIV-infected patients. Our secondary objective was to determine whether vitamin D deficiency was associated with metabolic syndrome in HIV. We conducted a cross-sectional study among participants enrolled in the prospective Modena (Italy) HIV Metabolic Clinic Cohort. Clinical and laboratory data, including history of type 2 diabetes mellitus, fasting blood glucose, components of metabolic syndrome, and 25-hydroxyvitamin D levels, were obtained for all participants. After adjusting for vitamin D supplementation, sex, age, body mass index, and hepatitis C virus co-infection, vitamin D deficiency was associated with type 2 diabetes mellitus [adjusted odds ratio (OR) 1.85; 95% confidence interval (CI) 1.03-3.32; P = 0.038]. The association between vitamin D deficiency and metabolic syndrome was not significant after adjusting for vitamin D supplementation, sex, age and body mass index (adjusted OR 1.32; 95% CI 1.00-1.75; P = 0.053). Our study demonstrates an association between vitamin D deficiency and type 2 diabetes mellitus. Clinical trials are needed to better characterize the association between vitamin D deficiency and type 2 diabetes mellitus in HIV infection and to evaluate whether vitamin D is able to prevent or delay the onset of type 2 diabetes mellitus.

Genetics Home Reference: GM3 synthase deficiency

MedlinePlus

... GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first ... Testing (1 link) Genetic Testing Registry: Amish infantile epilepsy syndrome Other Diagnosis and Management Resources (2 links) ...

Cinerama sickness and postural instability.

PubMed

Bos, Jelte E; Ledegang, Wietse D; Lubeck, Astrid J A; Stins, John F

2013-01-01

Motion sickness symptoms and increased postural instability induced by motion pictures have been reported in a laboratory, but not in a real cinema. We, therefore, carried out an observational study recording sickness severity and postural instability in 19 subjects before, immediately and 45 min after watching a 1 h 3D aviation documentary in a cinema. Sickness was significantly larger right after the movie than before, and in a lesser extent still so after 45 min. The average standard deviation of the lateral centre of pressure excursions was significantly larger only right afterwards. When low-pass filtered at 0.1 Hz, lateral and for-aft excursions were both significantly larger right after the movie, while for-aft excursions then remained larger even after 45 min. Speculating on previous findings, we predict more sickness and postural instability in 3D than in 2D movies, also suggesting a possible, but yet unknown risk for work-related activities and vehicle operation. Watching motion pictures may be sickening and posturally destabilising, but effects in a cinema are unknown. We, therefore, carried out an observational study showing that sickness then is mainly an issue during the exposure while postural instability is an issue afterwards.

[Vitamin B12 deficiency: what's new?].

PubMed

Braillard, O; Casini, A; Samii, K; Rufenacht, P; Junod, Perron N

2012-09-26

Vitamin B12 screening is only recommended among symptomatic patients or in those with risk factors. The main cause of vitamin B12 deficiency is the food cobalamin malabsorption syndrom. Holotranscobalamin is a more reliable marker than cyanocobalamin to confirm vitamin B12 deficiency, but it has not been validated yet in complex situations. An autoimmune gastritis must be excluded in the absence of risk factors but in the presence of a probable deficiency. Oral substitution treatment is effective but requires excellent therapeutic compliance and close follow-up to monitor the response to treatment. It has not yet been studied among patients suffering from severe symptoms, inflammatory bowel disease and ileal resection.

Effects of myofascial release techniques on pain, physical function, and postural stability in patients with fibromyalgia: a randomized controlled trial.

PubMed

Castro-Sánchez, Adelaida María; Matarán-Peñarrocha, Guillermo A; Arroyo-Morales, Manuel; Saavedra-Hernández, Manuel; Fernández-Sola, Cayetano; Moreno-Lorenzo, Carmen

2011-09-01

To determine the effect of myofascial release techniques on pain symptoms, postural stability and physical function in fibromyalgia syndrome. A randomized, placebo-controlled trial was undertaken. Eighty-six patients with fibromyalgia syndrome were randomly assigned to an experimental group and a placebo group. Patients received treatments for 20 weeks. The experimental group underwent 10 myofascial release modalities and the placebo group received sham short-wave and ultrasound electrotherapy. Outcome variables were number of tender points, pain, postural stability, physical function, clinical severity and global clinical assessment of improvement. Outcome measures were assessed before and immediately after, at six months and one year after the last session of the corresponding intervention. After 20 weeks of myofascial therapy, the experimental group showed a significant improvement (P  <  0.05) in painful tender points, McGill Pain Score (20.6 ± 6.3, P < 0.032), physical function (56.10 ± 17.3, P < 0.029), and clinical severity (5.08 ± 1.03, P < 0.039). At six months post intervention, the experimental group had a significantly lower mean number of painful points, pain score (8.25 ± 1.13, P < 0.048), physical function (58.60 ± 16.30, P < 0.049) and clinical severity (5.28 ± 0.97, P < 0.043). At one year post intervention, the only significant improvements were in painful points at second left rib and left gluteal muscle, affective dimension, number of days feeling good and clinical severity. The results suggest that myofascial release techniques can be a complementary therapy for pain symptoms, physical function and clinical severity but do not improve postural stability in patients with fibromyalgia syndrome.

Age Related Decline in Postural Control Mechanisms.

ERIC Educational Resources Information Center

Stelmach, George E.; And Others

1989-01-01

Studied voluntary and reflexive mechanisms of postural control of young (N=8) and elderly (N=8) adults through measurement of reflexive reactions to large-fast and small-slow ankle rotation postural disturbances. Found reflexive mechanisms relatively intact for both groups although elderly appeared more disadvantaged when posture was under the…

[Efficacy of acupoint catgut embedding combined with ginger-partitioned moxibustion on chronic fatigue syndrome of spleen-kidney yang deficiency syndrome and its effects on T lymphocyte subsets and activity of NK cell].

PubMed

Xia, Depeng; Chen, Peifang; Du, Peixue; Ding, Lijun; Liu, Anli

2017-08-12

To observe the efficacy differences between acupoint catgut embedding combined with ginger-partitioned moxibustion and regular acupuncture on chronic fatigue syndrome (CFS) of spleen-kidney yang deficiency syndrome, and to explore its effects on T lymphocyte subsets and activity of NK cell. A total of 60 patients with CFS of spleen-kidney yang deficiency syndrome were randomly divided into a catgut embedding combined with ginger-partitioned moxibustion (CECGP) group and a regular acupuncture group, 30 cases in each one. The patients in the CECGP group were treated with acupoint catgut embedding combined with ginger-partitioned moxibustion; the acupoint catgut embedding was applied at Guanyuan (CV 4), Shenshu (BL 23), Pishu (BL 20), Zusanli (ST 36), Qihai (CV 6), once a week, while the ginger-partitioned moxibustion was applied at Guanyuan (CV 4), Qihai (CV 6) and Zusanli (ST 36), once every three days for consecutive one month. The patients in the regular acupuncture group were treated with regular acupuncture at Guanyuan (CV 4), Shenshu (BL 23), Pishu (BL 20), Zusanli (ST 36), Qihai (CV 6), once a day, 6 treatments per week (one day for rest) for consecutive one month. The clinical symptom scores, fatigue scale-14 (FS-14), fatigue assessment instrument (FAI), laboratory test results and total effective rate were compared between the two groups before and after treatment. (1) After treatment, the clinical symptom scores, FS-14 and FAI were reduced in the two groups (all P <0.05); after treatment, the clinical symptom scores, FS-14 and FAI in the CECGP group were significantly lower than those in the regular acupuncture group (all P <0.05). (2) After treatment, the CD 4 + /CD 8 + , natural killer cell% (NK%), CD 3 + %, CD% were all increased in the two groups (all +4 P <0.05); the CD 4 + /CD 8 + , CD 3 + %, CD% in the CECGP group were significantly higher than those in the regular acupuncture group (all P <0.05). (3) After treatment, the total effective rate was 96

Increased alertness, better than posture prioritization, explains dual-task performance in prosthesis users and controls under increasing postural and cognitive challenge.

PubMed

Howard, Charla L; Perry, Bonnie; Chow, John W; Wallace, Chris; Stokic, Dobrivoje S

2017-11-01

Sensorimotor impairments after limb amputation impose a threat to stability. Commonly described strategies for maintaining stability are the posture first strategy (prioritization of balance) and posture second strategy (prioritization of concurrent tasks). The existence of these strategies was examined in 13 below-knee prosthesis users and 15 controls during dual-task standing under increasing postural and cognitive challenge by evaluating path length, 95% sway area, and anterior-posterior and medial-lateral amplitudes of the center of pressure. The subjects stood on two force platforms under usual (hard surface/eyes open) and difficult (soft surface/eyes closed) conditions, first alone and while performing a cognitive task without and then with instruction on cognitive prioritization. During standing alone, sway was not significantly different between groups. After adding the cognitive task without prioritization instruction, prosthesis users increased sway more under the dual-task than single-task standing (p ≤ 0.028) during both usual and difficult conditions, favoring the posture second strategy. Controls, however, reduced dual-task sway under a greater postural challenge (p ≤ 0.017), suggesting the posture first strategy. With prioritization of the cognitive task, sway was unchanged or reduced in prosthesis users, suggesting departure from the posture second strategy, whereas controls maintained the posture first strategy. Individual analysis of dual tasking revealed that greater postural demand in controls and greater cognitive challenge in prosthesis users led to both reduced sway and improved cognitive performance, suggesting cognitive-motor facilitation. Thus, activation of additional resources through increased alertness, rather than posture prioritization, may explain dual-task performance in both prosthesis users and controls under increasing postural and cognitive challenge.

Growth hormone deficiency: an update.

PubMed

Audí, L; Fernández-Cancio, M; Camats, N; Carrascosa, A

2013-03-01

Growth hormone (GH) deficiency (GHD) in humans manifests differently according to the individual developmental stage (early after birth, during childhood, at puberty or in adulthood), the cause or mechanism (genetic, acquired or idiopathic), deficiency intensity and whether it is the only pituitary-affected hormone or is combined with that of other pituitary hormones or forms part of a complex syndrome. Growing knowledge of the genetic basis of GH deficiency continues to provide us with useful information to further characterise mutation types and mechanisms for previously described and new candidate genes. Despite these advances, a high proportion of GH deficiencies with no recognisable acquired basis continue to be labelled as idiopathic, although less frequently when they are congenital and/or familial. The clinical and biochemical diagnoses continue to be a conundrum despite efforts to harmonise biochemical assays for GH and IGF-1 analysis, probably because the diagnosis based on the so-called GH secretion stimulation tests will prove to be of limited usefulness for predicting therapy indications.

Catalase deficiency may complicate urate oxidase (rasburicase) therapy.

PubMed

Góth, László; Bigler, N William

2007-09-01

Patients with low (inherited and acquired) catalase activities who are treated with infusion of uric acid oxidase because they are at risk of tumour lysis syndrome may experience very high concentrations of hydrogen peroxide. They may suffer from methemoglobinaemia and haemolytic anaemia which may be attributed either to deficiency of glucose-6-phosphate dehydrogenase or to other unknown circumstances. Data have not been reported from catalase deficient patients who were treated with uric acid oxidase. It may be hypothesized that their decreased blood catalase could lead to the increased concentration of hydrogen peroxide which may cause haemolysis and formation of methemoglobin. Blood catalase activity should be measured for patients at risk of tumour lysis syndrome prior to uric acid oxidase treatment.

Adipose Deficiency of Nrf2 in ob/ob Mice Results in Severe Metabolic Syndrome

PubMed Central

Xue, Peng; Hou, Yongyong; Chen, Yanyan; Yang, Bei; Fu, Jingqi; Zheng, Hongzhi; Yarborough, Kathy; Woods, Courtney G.; Liu, Dianxin; Yamamoto, Masayuki; Zhang, Qiang; Andersen, Melvin E.; Pi, Jingbo

2013-01-01

Nuclear factor E2–related factor 2 (Nrf2) is a transcription factor that functions as a master regulator of the cellular adaptive response to oxidative stress. Our previous studies showed that Nrf2 plays a critical role in adipogenesis by regulating expression of CCAAT/enhancer-binding protein β and peroxisome proliferator–activated receptor γ. To determine the role of Nrf2 in the development of obesity and associated metabolic disorders, the incidence of metabolic syndrome was assessed in whole-body or adipocyte-specific Nrf2-knockout mice on a leptin-deficient ob/ob background, a model with an extremely positive energy balance. On the ob/ob background, ablation of Nrf2, globally or specifically in adipocytes, led to reduced white adipose tissue (WAT) mass, but resulted in an even more severe metabolic syndrome with aggravated insulin resistance, hyperglycemia, and hypertriglyceridemia. Compared with wild-type mice, WAT of ob/ob mice expressed substantially higher levels of many genes related to antioxidant response, inflammation, adipogenesis, lipogenesis, glucose uptake, and lipid transport. Absence of Nrf2 in WAT resulted in reduced expression of most of these factors at mRNA or protein levels. Our findings support a novel role for Nrf2 in regulating adipose development and function, by which Nrf2 controls the capacity of WAT expansion and insulin sensitivity and maintains glucose and lipid homeostasis. PMID:23238296

Postural Stability in Older Adults With Alzheimer Disease.

PubMed

Mesbah, Normala; Perry, Meredith; Hill, Keith D; Kaur, Mandeep; Hale, Leigh

2017-03-01

The prevalence of adults with Alzheimer disease (AD) aged >65 years is increasing and estimated to quadruple by 2051. The aim of this study was to investigate postural stability in people with mild to moderate AD and factors contributing to postural instability compared with healthy peers (controls). A computerized systematic search of databases and a hand search of reference lists for articles published from 1984 onward (English-language articles only) were conducted on June 2, 2015, using the main key words "postural stability" and "Alzheimer's disease." Sixty-seven studies were assessed for eligibility (a confirmed diagnosis of AD, comparison of measured postural stability between participants with AD and controls, measured factors potentially contributing to postural instability). Data were extracted, and Downs and Black criteria were applied to evaluate study quality. Eighteen articles were analyzed using qualitative synthesis and reported based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Strength of evidence was guided by the Grading of Recommendations Assessment, Development and Evaluation. Strong evidence was found that: (1) older adults with mild to moderate AD have reduced static and functional postural stability compared with healthy peers (controls) and (2) attentional demand during dual-task activity and loss of visual input were key factors contributing to postural instability. Deta-analysis was not possible due to heterogeneity of the data. Postural stability is impaired in older adults with mild to moderate AD. Decreasing visual input and concentrating on multiple tasks decrease postural stability. To reduce falls risk, more research discerning appropriate strategies for the early identification of impairment of postural stability is needed. Standardization of population description and consensus on outcome measures and the variables used to measure postural -instability and its contributing factors

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

PubMed

Henriques, Margarida; Diogo, Luísa; Garcia, Paula; Pratas, João; Simões, Marta; Grazina, Manuela

2012-08-01

MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history of ornithine transcarbamylase deficiency, associated with the IVS8+1 G>A mutation in the ornithine transcarbamylase gene, prompted prenatal diagnosis with identification of the same mutation in the proband. During an episode of Klebsiella pneumoniae sepsis at 1.5 months of age, lactic acidosis and moderate hyperammonemia were noticed. After a short asymptomatic period, progressive neurologic symptoms, with normal ammonemia, persistent hyperlactacidemia, and typical lesions in brain computed tomography (CT) scan led to a diagnosis of Leigh syndrome. Mitochondrial respiratory chain complex V was reduced in the liver. The mtDNA 8993T>G mutation was identified in the liver, muscle, and blood (82%-87% heteroplasmy). She died at 6 months of age. This case represents a benign phenotype of ornithine transcarbamylase deficiency, associated with a severe mitochondrial respiratory chain disorder due to an mtDNA pathogenic mutation.

The effects of brief swaying on postural control.

PubMed

Pagé, Sara; Maheu, Maxime; Landry, Simon P; Champoux, François

2017-12-06

Postural control can be improved with balance training. However, the nature and duration of the training required to enhance posture remains unclear. We studied the effects of 5 min of a self-initiated balance exercise along a single axis on postural control in healthy individuals. Postural control was measured before and after a 5-min period where members of the experimental group were asked to lean their entire body forward and backward and members of the control group were asked to remain seated. A significant improvement for sway velocity, a postural control variable significantly associated with an increased risk of falls, was found in the experimental group following the body sway exercise. These data suggest that a basic exercise can rapidly improve postural control and reduce the risk of falls.

Activation timing of postural muscles of lower legs and prediction of postural disturbance during bilateral arm flexion in older adults.

PubMed

Yaguchi, Chie; Fujiwara, Katsuo; Kiyota, Naoe

2017-12-22

Activation timings of postural muscles of lower legs and prediction of postural disturbance were investigated in young and older adults during bilateral arm flexion in a self-timing task and an oddball task with different probabilities of target presentation. Arm flexion was started from a standing posture with hands suspended 10 cm below the horizontal level in front of the body, in which postural control focused on the ankles is important. Fourteen young and 14 older adults raised the arms in response to the target sound signal. Three task conditions were used: 15 and 45% probabilities of the target in the oddball task and self-timing. Analysis items were activation timing of postural muscles (erector spinae, biceps femoris, and gastrocnemius) with respect to the anterior deltoid (AD), and latency and amplitude of the P300 component of event-related brain potential. For young adults, all postural muscles were activated significantly earlier than AD under each condition, and time of preceding gastrocnemius activation was significantly longer in the order of the self-timing, 45 and 15% conditions. P300 latency was significantly shorter, and P300 amplitude was significantly smaller under the 45% condition than under the 15% condition. For older adults, although all postural muscles, including gastrocnemius, were activated significantly earlier than AD in the self-timing condition, only activation timing of gastrocnemius was not significantly earlier than that of AD in oddball tasks, regardless of target probability. No significant differences were found between 15 and 45% conditions in onset times of all postural muscles, and latency and amplitude of P300. These results suggest that during arm movement, young adults can achieve sufficient postural preparation in proportion to the probability of target presentation in the oddball task. Older adults can achieve postural control using ankle joints in the self-timing task. However, in the oddball task, older adults

The prevention of selected and imposed posture-caused injury.

PubMed

Kemp, D

1977-09-01

It has been recognized for centuries that posture and health are interrelated. Poor health and injuries impose their own specific postures, and poor posture can contribute towards injury and poor health. The correlation between posture and health is not absolute. We can say that a certain posture will increase the probability of injury. Individual differences of age, sex, somatype, fitness, fatigue, load and frequency of posture adoption will dictate if injury will occur, or not, with any individual. There is no doubt that some postures are more stressful than others. The individual factors mentioned dictate whether the resulting strain is above or below the critical amount required for injury. Copyright © 1977 Australian Physiotherapy Association. Published by . All rights reserved.

Prostaglandin E2 is critical for the development of niacin-deficiency-induced photosensitivity via ROS production

NASA Astrophysics Data System (ADS)

Sugita, Kazunari; Ikenouchi-Sugita, Atsuko; Nakayama, Yasuko; Yoshioka, Haruna; Nomura, Takashi; Sakabe, Jun-Ichi; Nakahigashi, Kyoko; Kuroda, Etsushi; Uematsu, Satoshi; Nakamura, Jun; Akira, Shizuo; Nakamura, Motonobu; Narumiya, Shuh; Miyachi, Yoshiki; Tokura, Yoshiki; Kabashima, Kenji

2013-10-01

Pellagra is a photosensitivity syndrome characterized by three ``D's'': diarrhea, dermatitis, and dementia as a result of niacin deficiency. However, the molecular mechanisms of photosensitivity dermatitis, the hallmark abnormality of this syndrome, remain unclear. We prepared niacin deficient mice in order to develop a murine model of pellagra. Niacin deficiency induced photosensitivity and severe diarrhea with weight loss. In addition, niacin deficient mice exhibited elevated expressions of COX-2 and PGE syntheses (Ptges) mRNA. Consistently, photosensitivity was alleviated by a COX inhibitor, deficiency of Ptges, or blockade of EP4 receptor signaling. Moreover, enhanced PGE2 production in niacin deficiency was mediated via ROS production in keratinocytes. In line with the above murine findings, human skin lesions of pellagra patients confirmed the enhanced expression of Ptges. Niacin deficiency-induced photosensitivity was mediated through EP4 signaling in response to increased PGE2 production via induction of ROS formation.