Frequency Of Clinical Features Research Articles

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

ObjectiveRecent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders.MethodsCaregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2.ResultsThe top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features.ConclusionThe top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers.

Changes in the frequency and clinical features of acute rheumatic fever in the COVID-19 era: a retrospective analysis from a single center.

SUMMARYOBJECTIVE:Coronavirus disease 2019 (COVID-19) pandemic resulted in significant changes in the frequency of many diseases. In this study, we aimed to investigate the changes in the frequency and clinical features of acute rheumatic fever (ARF) in this period and determine the effect of health measures taken against COVID-19 on this change.METHODS:The cases with initial attack of ARF between January 2016 and March 2022 in Ataturk University, Division of Pediatric Cardiology, were determined from the clinic’s database, and case per month ratios were calculated for each period, retrospectively. Also the frequency of the clinical manifestations was compared among patients before and during the outbreak.RESULTS:Frequency of the major clinical manifestations among patients before and during the outbreak was similar. On average, the number of cases reported per month in the years 2016, 2017, 2018, and 2019 are, respectively, 1.75, 2, 2.25, and 2.58. In the first 3 months of 2020, the average number of cases reported per month was 3.67. After the advent of the pandemic, in the period from April to December 2020 and from January to September 2021, an average of 0.56 and 0.22 cases were reported per month, respectively. The frequency of clinical features between patients diagnosed before and during the outbreak was similar.CONCLUSIONS:Our results indicated an important decrease in frequency of ARF, but no change in the clinical features of the disease during the COVID-19 pandemic. It is thought that this is the result of health measures taken for COVID-19. Children with an increased risk of acute rheumatic fever should be encouraged in terms of wearing mask, social distance, and cleaning, especially during the seasons when upper respiratory tract infections are common. Thus, a permanent decrease in the incidence of ARF and its recurrences may be achieved.

Odontogenic Kerato Cysts: Clinical and Radiographic Presentations

Introduction: Odontogenic keratocysts (OKCs) are developmental odontogenic cysts of epithelial origin. The initial terminology for an odontogenic keratocyst (OKC) was “primordial cyst,” as the origin of the lesion was thought to be the tooth primordium. Objective: To determine the frequency of clinical features and radio graphical appearance of odontogenic keratocyst. Subjects and methods: This Cross Sectional Study was conducted in Akhtar saeed trust hospital Lahore from 2020 to March 2021. A total of 216 patients of both genders with odontogenic keratocysts were included. Patients with history of basal cell nervous syndrome, Orthokeratinized variant and treated cases were excluded. Clinical features and radio graphical appearance of odontogenic keratocyst was collected as per operational definition. Clinical features were noted under the supervision of a consultant with 3 years’ post fellowship experience. Data was collected and noted. Results: Age range in this study was from 20 to 40 years with mean age of 29.629±3.87 years, mean weight 72.675±12.99 kg, mean height 1.556±0.10 meters, mean BMI 30.087±5.03 Kg/m2, mean duration of complain 8.555±2.49 months and mean pain score was 5.291±1.85. Majority of the patients (61.1%) belongs to 20-30 years age groups. While males were 56.9% as compare to females 43.1%. Pain was seen in 52.8% patients, facial asymmetry 69.4% and root resorption was 9.3%. Conclusion: It is recommended to the general dental practitioners to have an overview of whole of the stomatognathic system, even if a patient comes for a single tooth problem.

Differences in clinical features associated with cannabis intoxication in presentations to European emergency departments according to patient age and sex

Objective To investigate if clinical features associated with acute cannabis intoxication in patients presenting to Emergency Departments for medical assistance differ according to patient age and sex. Methods We analysed presentations in the Euro-DEN Plus dataset from 2014 to 2019 in which cannabis was the only drug involved (except for alcohol), and age, sex and alcohol co-ingestion had been recorded. Age was considered as categorical (five groups; <20, 20–29, 30–39, 40–49 and ≥50 years), and sex as binary variable (male/female). We evaluated 12 key clinical features recorded during emergency department (ED) care. Risks of presenting with each of these clinical features according to patient age and sex were calculated by logistic regression models, and adjusted for sex, age and alcohol co-ingestion. Results 4,268 of 43,633 Euro-DEN presentations (9.8%) fulfilled the inclusion criteria (median age: 26 years (IQR = 20–34), 70% male, 52% co-ingested alcohol). The frequency of clinical features was: anxiety 28%, vomiting 24%, agitation 23%, palpitations 14%, reduced consciousness 13%, acute psychosis 9%, hallucinations 9%, chest pain 7%, headache 6%, hypotension 4%, hypertension 3% and seizures 2%. Patients younger than 20 years more frequently had vomiting (34.7% of cases), reduced consciousness (21.5%), and headache (10.8%); and less frequently acute psychosis (5.5%). Patients older than 49 years more often had hypotension (6.5%) and less frequently vomiting (20%), anxiety (14%), agitation (14%) and reduced consciousness (10%). Males more frequently presented with hypertension (3.7 vs. 1.5%; OR = 2.311, 95%CI = 1.299–3.816), psychosis (10.4 vs 6.3%; 1.948, 1.432–2.430), chest pain (8.1 vs 4.5%; 1.838, 1.390–2.430) and seizures (2.5 vs 1.4%; 1.805, 1.065–3.060), and less frequently with vomiting (21.8 vs 28.2%; 0.793, 0.677–0.930), anxiety (25.4 vs 32.3%; 0.655, 0.561–0.766) and hypotension (2.9 vs 5.8%; 0.485, 0.350–0.671). Conclusions The prevalence of some clinical features typically associated with acute cannabis intoxication differed according to age and sex. The causes for these differences should be further investigated in order to better understand the pathophysiology of cannabis-related acute toxicity, and they may be relevant particularly for developing prevention campaigns and for treatment in specific sex and/or age groups.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

PurposeTo investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1). MethodsMultiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were performed to study their pathogenicity and understand the disease mechanism. ResultsThe consistent clinical features of the affected individuals, from seven unrelated families, included choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. The frequency of clinical features, objective software-based facial analysis metrics, and genome-wide peripheral blood DNA methylation patterns in these patients were significantly different from that of KS1. Circular dichroism spectroscopy indicated that these MVs perturb KMT2D secondary structure through an increased disordered to ɑ-helical transition. ConclusionKMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.

Clinical characteristics of patients with stroke code activation not identified by the emergency medical service

To determine the sensitivity of stroke detection by emergency medical services (EMS) and to analyse the clinical characteristics of unidentified patients with suspected stroke. Prospective register of patients with suspected stroke in our area (850,000 inhabitants) from 2011 to 2017. The population that notified the EMS was selected. Of this population, patients with and without stroke code activation by the EMS were compared (EMS+ versus EMS-). Demographics, time to progression, clinical characteristics of the episode and reperfusion therapy administered were recorded. Of a total of 5,497 patients with suspected stroke, 2,087 alerted the EMS: 1,611 (77%) EMS+ and 476 (33%) EMS-. The EMS- patients presented lower scores on the National Institute of Health Stroke Scale (8 vs. 11) and a greater frequency of clinical features of the vertebrobasilar territory (14.1% vs. 8.7%) and partial hemispheric clinical features (23.5% vs. 18.4%), especially in the left hemisphere (78.1% vs. 48.4%). Reperfusion treatment was administered in 29% of EMS+ and 23% of EMS-. The time from symptom onset to treatment was 42 minutes longer in the EMS group (175 versus 133 minutes). The sensitivity of EMS to detect stroke patients in our series is 77%. We have identified clinical features associated with lack of sensitivity, such as vertebrobasilar territory symptoms or isolated language disorder.

Profile of clinical features, congenital heart disease and other comorbidities in children with Down syndrome in a tertiary care centre in Nigeria

Background: Down syndrome (DS) is a common chromosomal disorder associated with congenital heart disease (CHD) which could lead to severe morbidity or mortality. Objective: To determine the frequency and spectrum of clinical features, CHD and other comorbidities in children with DS in a tertiary care centre in Nigeria. Method : Consecutive children with clinical features of DS were recruited. The frequency of clinical features and co-morbidities were noted. All the children had echocardiographic evaluation to identify those with CHD. Results : A total of 64 children was recruited of which 36 (56%) were male. Fifty one (80%) had CHD of which atrio-ventricular septal defect (AVSD) was the commonest, being found in 20 (39%) children. Common clinical features present were oblique eyes in 64 (100%), depressed nasal bridge in 60 (94%) low set ears in 53 (83%) and epicanthal folds in 50 (78%). Conclusions : Prevalence of CHD amongst DS children in this study was 80% with AVSD being the commonest. The most prevalent clinical features seen in these children were oblique eyes, epicanthal fold, depressed nasal bridge, low set ears, hypertelorism and hypotonia. Sri Lanka Journal of Child Health , 2018; 47 (1): 50-55

Lack of the Association of the PTPN22 C1858T Gene Polymorphism With Susceptibility to Familial Mediterranean Fever.

This study aims to investigate whether the protein tyrosine phosphatase non-receptor type 22 (PTPN22) C1858T gene polymorphism plays a role in the pathogenesis of familial Mediterranean fever (FMF) through T-lymphocyte activation. We conducted a case-control study with 180 FMF patients (68 males, 112 females; mean age 38.2±1.6 years; range 16 to 81 years) and 184 healthy controls (86 males, 98 females; mean age 32.9±9.2 years; range 18 to 58 years). The PTPN22 C1858T polymorphism (rs2476601) was genotyped by polymerase chain reaction restriction fragment length polymorphism. In patients with FMF, clinical features, disease severity score, the frequencies of amyloidosis, positive family history, and Mediterranean fever gene mutations were determined. The frequencies of heterozygous genotype (CT) were 4.5% in FMF patients and 2.8% in healthy controls, respectively. The frequencies of polymorphic homozygous genotypes (TT) were 0.5% in both FMF patients and healthy controls. There were no statistically significant differences in the frequencies of CT and TT genotypes between FMF patients and healthy controls (odds ratio: 1.65, 95% confidence interval: 0.53-5.14, p>0.05 for CT genotype). The frequencies of clinical features, sex, amyloidosis, positive family history, Mediterranean fever gene mutations, and disease severity score were not significantly different between the patients. The distribution of PTPN22 C1858T polymorphism did not reveal any association with FMF in a Turkish population.

Brief review: Piriformis syndrome: etiology, diagnosis, and management

In this narrative review, we aim to provide the pathophysiology and diagnostic criteria of the piriformis syndrome (PS), an underdiagnosed cause of buttock and leg pain that can be difficult to treat. Based on existing evidence, frequencies of clinical features are estimated in patients reported to have PS. In view of the increasing popularity of ultrasound for intervention, the ultrasound-guided technique in the treatment of PS is described in detail. A literature search of the MEDLINE® database was performed from January 1980 to December 2012 using the search terms e.g., " piriformis injection", " ultrasound guided piriformis injection", " botulinum toxin", "pain management", and different structures relevant in this review. There was no restriction on language. A review of the medical literature pertaining to PS revealed that the existence of this entity remains controversial. There is no definitive proof of its existence despite reported series with large numbers of patients. Piriformis syndrome continues to be a controversial diagnosis for sciatic pain. Electrophysiological testing and nerve blocks play important roles when the diagnosis is uncertain. Injection of local anesthetics, steroids, and botulinum toxin into the piriformis muscle can serve both diagnostic and therapeutic purposes. An ultrasound-guided injection technique offers improved accuracy in locating the piriformis muscle. Optimizing the therapeutic approach requires an interdisciplinary evaluation of treatment.

OP0148 Peripheral Neuropathy (PN) in Primary Sjögren’s Syndrome: Implications of Clinical Assessment, Time of Diagnosis and Treatment

BackgroundClinical evidence of Primary Sjögren’s Syndrome (pSS) includes sicca symptoms, autoantibodies, physical exam evidence of keratoconjunctivitis sicca, and reduced salivary output. Patients with pSS may also present with peripheral neuropathy...

Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias

To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias. A retrospective chart review analysis was conducted on 167 patients evaluated in neurology outpatient clinics for ataxia or ataxia-related symptoms. The frequency of clinical features, determined a priori, in the 2 groups was compared. A larger proportion of patients were diagnosed with a nongenetic cause than with a genetic cause (89% [148 patients] vs 11% [19 patients]). The majority of patients in the nongenetic group (56% [83/148]) presented early for medical evaluation, compared with 31% (6/19) in the genetic group. Consanguinity (16% vs 4%) and positive family history (16% vs 2%) were more frequent in the genetic group. Presenting symptoms of abnormal gait (95% vs 57%) and muscle weakness (47% vs 8%), including physical findings of abnormal muscle tone (63% vs 32%), abnormal reflexes (63% vs 16%), clonus (26% vs 9%), dysmetria (32% vs 5%), pes cavus (21% vs 1%), sensory deficits (16% vs 0%), and nonneurologic musculoskeletal abnormalities (58% vs 19%), were more prevalent in the genetic group. Certain clinical features can help delineate between inherited and noninherited causes of childhood ataxia and thus guide physicians in the targeted evaluation of patients.

Immune status of the workers of technogenic-excited environment manufacture and of population living in this territory

Background. To study the influence of technogenic-excited environment manufacture on clinical and immune parameters of employees and population living in the territory of its influence. Methods. The analysis of frequency of clinical features of immune dysfunction with clinical, immunolological and allergological examination was carried out. 689 persons were examined: 474 - the personnel of industrial complex, 215 - the population which is not working at industrial complex. Results. Clinical signs of immune dysfunction during 2 year follow-up period were established in 77,3% of population group. The immune parameters in all groups during 2 year follow-up period in comparison with those during 1 year follow-up period showed the decreasing of number of leukocytes, T-lymphocytes, CD4+ T-lymphocytes as well as immunoregulative index. It was defined dissociation in level of NK-cells, expressed in decreasing of absolute values of CD16+ lymphocytes and increasing of their percentage and increasing of CD8+ T-lymphocytes, B-lymphocytes and phagocytosis parameters.

Distinctive clinical features of pediatric systemic lupus erythematosus in three different age classes

It is estimated that around 20% of patients with systemic lupus erythematosus (SLE) have their onset in childhood but there have been conflicting data about the prevalence and severity of the clinical features in different age classes. We conducted this study to analyse the clinical features of patients with pediatric SLE (pSLE) with onset in infancy, prepubertal and postpubertal age. The charts of patients followed at the Department of Pediatrics, University of Padua, who met the criteria for SLE diagnosis, were reviewed. Patients were divided into three groups based on age at disease onset: group A, patients < or =2 years old, group B patients aged between 2 and 10 years, group C patients between 11 and 16 years of age. The clinical and laboratory characteristics of each group were compared. Forty-two patients with pSLE entered the study: 2 were diagnosed before the age of 2 years, 11 between 2 and 10 years and 29 between 10 and 16 years. Eleven more patients with infantile (onset <2 years) SLE (iSLE) were found by a systematic literature search on PubMed and EmBASE and added for analysis to the group A. The female preponderance was significant only in postpubertal patients (F:M = 6.3: 1) whereas the other two groups presented a similar F:M ratio (1.2: 1). In comparison with the other two groups, iSLE showed a significantly higher prevalence of cardiovascular and pulmonary involvement, anemia and thrombocytopenia and a shorter disease duration at time of diagnosis. The postpubertal group showed a higher frequency of musculoskeletal involvement and leukopenia. In prepubertal patients there was no female preponderance and the frequency of clinical features was intermediate between infantile and postpubertal patients. Complement fractions level, antinuclear antibodies (ANA), anti-dsDNA, anti-cardiolipin antibodies and lupus anti-coagulant autoantibodies were not significantly different in the three groups. In general, the prevalence of internal organs involvement in pSLE seems to decrease with age. In infants, SLE is more severe than in the following ages. Postpubertal patients have a strong female preponderance and more specific signs of disease at onset. Prepubertal patients have an intermediate disease severity and no gender predilection.

Autoantibodies in Systemic Sclerosis

To describe the clinical, laboratory, and prognostic features associated with the scleroderma-specific autoantibodies. Using the Pittsburgh Scleroderma Databank, all consecutive patients seen between 1980 and 1995 who had autoantibody studies performed were studied. Anticentromere antibodies (ACA), antitopoisomerase (TOPO), anti-U1-RNP (U1-RNP), anti-RNA Polymerase III (Pol 3), anti-U3-RNP (U3-RNP), anti-Th/To (Th/To), and anti-Pm/Scl (Pm/Scl) were determined according to previously described methods. The frequency of clinical features, organ system outcomes, and survival within the patients with a specific antibody were cumulative over the course of the disease. The frequency of a specific feature was compared across groups to identify significant manifestations and outcomes in patients with a specific antibody. Some demographic, clinical, and organ system findings were associated with the specific antibody, and other features with the scleroderma subtype (limited cutaneous or diffuse cutaneous scleroderma). U3-RNP, U1-RNP, and TOPO were seen more commonly in African-American patients, and ACA was seen in older, female Caucasians. Muscle inflammation was seen in patients with U1-RNP and U3-RNP. Digital tip ulcers and digital tuft resorption were seen more frequently in those with ACA and TOPO. A vasculopathy causing pulmonary hypertension typically occurs with ACA and pulmonary fibrosis with TOPO; however, both types of lung disease were seen in patients with nucleolar antibodies, Th/To and U3-RNP. Importantly, severe interstitial fibrosis was rarely seen in cases with Pol 3. Renal crisis was strongly associated with Pol 3. Survival within limited scleroderma was decreased in the Th/To patients compared with ACA patients. Within the diffuse scleroderma group, patients with Pol 3 had the best survival. Scleroderma autoantibodies are associated with very specific demographic, clinical, organ system, and survival features. The determination of scleroderma autoantibodies may be helpful in assessing the prognosis, monitoring, and treatment of scleroderma patients.

Clinical Evaluation of Behçet's Disease: A Five Year Follow-Up Study

The frequencies of clinical features of Behçet's disease vary in different studies according to the diagnostic criteria used in the study, the department where the study is done, and the ethnic origin of patients included in the study. In this study, we aimed to evaluate the influence of the length of the follow-up period of patients on the frequencies of clinical features of Behçet's disease. Out of 231 patients who applied to our dermatology clinic from June of 1991 to October of 1996, only 52 patients that were followed up for at least five years were included in this retrospective study. The baseline characteristics of these 52 patients were almost the same as those of the 179 patients who dropped out. Almost all of the frequencies of clinical features at the end of the follow-up period of five years were higher than those at the time of presentation. The most prominent increases were observed for erythema nodosum (59.6% to 75.0%), papulopustular lesions (84.6% to 94.2%), and large vessel involvement (23.1% to 30.8%). According to our results, it is most likely that studies mainly including mostly patients with long-standing disease will report higher figures for the frequencies of these clinical features of Behçet's disease.

The demographic and clinical spectrum of Arab versus Asian patients with ankylosing spondylitis in the UAE

Ankylosing spondylitis is a rather uncommon condition in the UAE. Over a period of 10 years. 28 hospital-based patients diagnosed as having AS were retrospectively studied. They included 17 Arabs and 11 Asians. The onset of AS in most patients in this study was in adulthood (mean age at onset was 27.7 years in Arabs and 28.75 years in Asians). HLA B27 was positive in 56 and 81% in these two populations, respectively (P > 0.05). Analysis of these figures, however, along with previous relevant published data, could indicate that Arabs with AS are less likely to be B27-positive than Asians. Among the Arab patients there was not a single case from the local community, which could be attributed to the extremely low rate of B27 phenotype in their normal population. The interracial variations in the frequency of clinical features were statistically insignificant, therefore indicating some degree of similarity in the form and disease expression in both groups. AS is characterized as being predominantly axial in the majority of our patients. Extraspinal (oligo-poly) arthropathy involved mainly hips and knees, and there have been fewer extra-articular manifestations compared with other series published.

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has been more difficult to demonstrate a clear correlation between clinical phenotype and the level of mutant mtDNA in vivo. To address this issue, we identified 245 individuals who carry either the A3243G or A8344G mutations, and studied the relationship between the incidence of specific clinical features and the level of mutant mtDNA in blood (for A3243G, n = 73; for A8344G, n = 25) and/or skeletal muscle (for A3234G, n = 111; for A8344G, n = 55). Within this study group, the frequency of key clinical features was significantly different for individuals harbouring the A3243G and A8344G mutations. For both mutations, there was a correlation between the frequency of the more common clinical features and the level of mutant mtDNA in muscle. In contrast, we did not observe a correlation between the frequency of clinical features and the level of mutant mtDNA in blood. Therefore, measurement of the level of the A3243G and A8344G mutations in muscle will allow the identification of individuals who are at risk of developing specific complications, thus improving the prognostic advice that can be given to patients and family members who carry these mutations.

A clinical and serological comparison of familial and non-familial systemic lupus erythematosus in Ireland.

Seventeen families, in which the diagnosis of SLE could be verified in two relatives, were included in the study. The diagnosis was made according to the revised 1982 ARA criteria. We compared the 34 cases of familial SLE in these 17 families with 34 non-familial SLE controls matched for age, sex, ethnicity and duration of disease. Comparisons were made for the presence of 26 clinical and 11 serological features. The frequency of clinical features was similar between the groups. The frequency of anti-Ro antibody was higher in the non-familial group (15 out of 34 compared to 6 out of 34, P = 0.036, McNemar's test), although this was not significant after application of Bonferoni's correction for the number of comparisons. No cases of familial IgA or familial complement deficiency were identified. It was noted that 10 of the 34 non-familial patients and only one of the familial patients had the combination of anti-Ro antibody and photosensitivity. The findings of this study support the hypothesis that familial SLE and non-familial SLE are the same clinical entity, although there are differences in the subtypes of disease.

The Acromegaly Syndrome&lt;subtitle&gt;RELATION BETWEEN CLINICAL FEATURES, GROWTH HORMONE VALUES AND RADIOLOGICAL CHARACTERISTICS OF THE PITUITARY TUMOURS&lt;/subtitle&gt;

One hundred and fifty-five acromegalics, 76 males (mean age 44 +/- 1.3 years) and 79 females (45 +/- 1.4 years) were studied. The frequency of clinical features were: acral enlargement 100 per cent, hyperhidrosis 65 per cent, headache 55 per cent, paraesthesiae 49 per cent, cardiac problems 34 per cent, hypertension 32 per cent, diabetes mellitus (clinical and chemical) 27 per cent, and visual field defects 6 per cent. Signs and symptoms, and particularly headache, did not show any relation with the size or shape of pituitary tumours, nor with growth hormone (GH) values, age, sex or weight. Mean of GH values at 60, 90 and 120 minutes during a GTT averaged 135 mIU/l, range 8-1833. Diabetes mellitus was more frequent and severe in patients with higher GH values, occurring in 32 per cent of patients with mean GH values greater than or equal to 50 mIU/l and only in 16 per cent of the rest (p less than 0.05). GH values correlated positively with size of tumours. Forty-nine per cent of patients presented with entirely intrasellar tumours, 27 per cent with suprasellar extensions and 23 per cent with partially empty sellae. The mean GH (238 mIU/l) of patients with suprasellar extensions was significantly higher (p less than 0.004) than those of the others. Younger acromegalics showed a tendency to larger tumours. Early treatment of acromegaly, particularly in young patients and those presenting with high GH values, is recommended.

Electromyographic Abnormalities in Chronic Environmental Arsenicalism

In this study of 92 people using wells with arsenic concentrations of >0.05 ppm (and with 21 control subjects), 27 of them had clinical features possibly attributable to chronic arsenic poisoning. There was a positive relationship between frequency of clinical features, and well and hair arsenic concentrations. Although the relationship between toxicity and hair arsenic concentration was rather varied, 1 ppm appears to be satisfactory upper limit of acceptability. For drinking water, an acceptable limit of 0.01 ppm and a maximum permissible limit of 0.05 ppm of arsenic appear satisfactory, but leave little safety margin.