Variant acute intermittent porphyria in a child

1990 ◽  
Vol 36 (5) ◽  
pp. 812-814 ◽  
Author(s):  
N R Badcock ◽  
G D Zoanetti ◽  
D A O'Reilly ◽  
E F Robertson
Keyword(s):  
Family History ◽  
Parenteral Nutrition ◽  
Enzyme Activities ◽  
Clinical Symptoms ◽  
Acute Intermittent Porphyria ◽  
Normal Activity ◽  
Porphobilinogen Deaminase ◽  
Acute Porphyria ◽  
Protoporphyrinogen Oxidase ◽  
History Of

Abstract A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontaneously after the withdrawal of carbamazepine and sodium valproate and the commencement of parenteral nutrition with subsequent carbohydrate loading. In addition to normal concentrations of enzyme activities, the patient is unusual in presenting before puberty and in having no family history of porphyria.

scholarly journals Influence of Family History of Neurodegenerative Diseases on Outcome Following Pediatric Concussion

Neurology ◽  
2019 ◽  
Vol 93 (14 Supplement 1) ◽  
pp. S7.2-S8
Author(s):  
Colt Coffman ◽  
Jacob Kay ◽  
Adam Harrison ◽  
Jeffery Holloway ◽  
Robert Davis Moore
Keyword(s):  
Family History ◽  
Neurodegenerative Disease ◽  
Clinical Symptoms ◽  
Cognitive Outcomes ◽  
Group Differences ◽  
Post Injury ◽  
Pediatric Concussion ◽  
History Of ◽  
Concussion History ◽  
Data Group

ObjectiveTo longitudinally evaluate the relation between family history of neurodegenerative disease and clinical symptoms, as well as vestibular-ocular and cognitive outcomes following concussion in children.BackgroundResearch indicates that pediatric concussion may lead to chronic alterations in neuropsychological health that can adversely affect neurodevelopment. Therefore, it is critical to identify risk factors that may moderate recovery to improve concussion outcomes in children. Evidence suggests that one such moderator may be a family history of neurodegenerative disease (FHND).Design/MethodsData were collected from a local pediatric concussion clinic. Patients were examined at 2- and 5-weeks post-injury. Clinical symptoms were measured using the Rivermead Post-Concussion Symptoms Questionnaire (RPQ). Vestibular-ocular function was assessed using the Vestibular/Ocular Motor Screening (VOMS) tool. Cognition was measured using a modified CogState Brain Injury Test Battery. Log-transformations were applied to normalize data. Group differences between those with (n = 13) and without (n = 26) a family history of neurodegenerative disease (Alzheimer’s, Non-Alzheimer’s Dementias, Parkinson’s, and/or Multiple Sclerosis) were analyzed. Children without FHND were double-matched based on sex, age, and concussion history.ResultsAcross timepoints, children with FHND reported more severe clinical symptoms on the RPQ (p’s < 0.05). Additionally, those with FHND showed higher VOMS saccades scores across timepoints compared to those without FHND (p’s < 0.05). Further, children with FHND reported greater dizziness following VOMS saccades and convergence tests at 5-weeks post-injury (p’s < 0.01). No group differences at any timepoint were observed for any measure of cognition.ConclusionsOur findings indicate that a family history of neurodegenerative disease is associated with more severe clinical symptoms and greater vestibular-ocular dysfunction following pediatric concussion.

Association of Exercise-Induced Bronchospasm with Obesity

1992 ◽  
Vol 4 (4) ◽  
pp. 351-359 ◽  
Author(s):  
Ted A. Kaplan ◽  
Mary Helen Campbell-Shaw ◽  
Gina Moccia
Keyword(s):  
Family History ◽  
Positive Result ◽  
Clinical Symptoms ◽  
Atopic Disease ◽  
Select Group ◽  
High Incidence ◽  
History Of ◽  
Total Pool ◽  
Provocation Testing ◽  
Exercise Induced

Exercise-induced bronchospasm (EIB) is present in many patients with asthma or with a family history of atopy. A review was made of exercise provocation testing performed on 37 children ages 5 to 17 years. Maximal forced expiratory maneuvers were performed before and serially every 3 minutes after a 7-min run/walk. A positive result was defined as a fall of at least 15% in FEV, or PEFR or 25% in FEF25-75 at some point within 20 min postexercise. A total of 27 out of 37 patients in this select group had positive tests (73%), with a mean fall in FEF25-75 of 31.9%. Of these 27 children with EIB, 16 had a history of atopy, 23 had clinical symptoms of EIB, and 21 were overweight. Of the 12 nonatopic children with EIB, 9 were overweight, with a mean fall in FEF25-75 of 32.1%. These 9 came from a total pool of 10 overweight, nonatopic children (90%). Being overweight was associated with a high incidence of EIB independent of a history of atopic disease.

scholarly journals Clinical Symptoms Used for Screening Diabetic Populations with Family History of Type 2 Diabetes Mellitus

2018 ◽  
Vol 1 (2) ◽  
pp. 24
Author(s):  
Siti Marlina ◽  
I Dewa Putu Pramantara ◽  
Hari J. Kusnanto ◽  
Mark Alan Graber
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Family History ◽  
Clinical Symptoms ◽  
Fasting Blood Glucose ◽  
Family History Of Diabetes ◽  
Birth History ◽  
History Of

Background: The annual prevalence of diabetes is increasing worldwide. With this growing concern, the identification of clinical symptoms in high risk populations, such as those with a family history of diabetes, is becoming increasingly important.Objectives: This study aimed to determine the use of clinical symptoms and history as a screening tool for diabetes mellitus (DM) in a population with a family history of Type 2 Diabetes Mellitus (T2DM).Methods: The design of this research was a cross sectional study. The subjects of this study were a sample population with family history of T2DM living in Kasihan and Sewon District of Bantul Regency. Data were collected through interviews with questionnaires, anthropometric measurements, total cholesterol tests, triglycerides and fasting blood glucose tests. Data analysis used univariate, bivariate and multivariate analyses. For screening purposes, validity was performed against risk factors with fasting blood glucose as a gold standard.Results: Prevalence of DM was 30.5%, and prediabetes 26.5%. Body Mass Index (BMI) prevalence =23 kg/m2 59.02%, hypertension 42.62%, physical inactivity 21.31%, and dyslipidemia 78.69%. Polyuria, polydipsia, and weight loss were significantly associated with T2DM. Birth history of weight =4 kg or Gestational Diabetes Mellitus (GDM) was a risk factor associated with T2DM incidence (p = 0.018; OR: 1.93; CI 95%: 1.12-3.34). The sensitivity of a combination of several factors, birth history of baby =4 kg or GDM with dyslipidemia (sensitivity 87.3% specificity 40.9%), birth history of weight =4 kg or GDM with dyslipidemia and hypertension (sensitivity 94.7% specificity 26.7%), combination of the five factors studied (sensitivity 92.3% specificity 50%). Combination of birth history of heavy baby =4kg or GDM and BMI = 23 kg/m2  and hypertension had a likelihood ratio of 9.Conclusions: This study determined the prevalence of T2DM in populations with a family history of diabetes is high, with birth history of weight = 4 kg or GDM as a factor associated with T2DM, and other clinical symptoms having a fairly high prevalence. Therefore, a comprehensive lifestyle change needs to be done.

scholarly journals Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Jing Yang ◽  
Qianlong Chen ◽  
Hang Yang ◽  
Baolai Hua ◽  
Tienan Zhu ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Acute Intermittent Porphyria ◽  
Sodium Concentration ◽  
Porphobilinogen Deaminase ◽  
Acute Porphyria ◽  
Tertiary Referral ◽  
Electrolyte Abnormality ◽  
Tertiary Referral Center ◽  
Laboratory Features ◽  
Precise Diagnosis

Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18–45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p=0.00). Genetic testing provided a precise diagnosis of the patients. Genetic analysis of the porphobilinogen deaminase (PBGD) gene was performed for 10 subjects. Of them, 9 were found to harbor a mutation in the PBGD gene, proving a diagnosis of acute intermittent porphyria, and, in 1 case, a novel Cys209Term mutation was found.

scholarly journals DIAGNOSTIC CRITERIA AND CLINICAL COURSE OF ATOPIC DERMATITIS IN ADULTS

2021 ◽  
pp. 8-12
Author(s):  
O. D. Aleksandruk
Keyword(s):  
Atopic Dermatitis ◽  
Family History ◽  
Diagnostic Criteria ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Disease Onset ◽  
Adult Patients ◽  
Adult Age ◽  
History Of ◽  
Minor Criteria

Objective: to analyze Atopic dermatitis (AD) diagnostics criteria routinely used for diagnosis as well as common findings and history in adult patients with different age of onset of the disease. Materials and methods. 123 adult patients aged between 18 and 58 years with AD relapse were examined. The diagnosis was confirmed according to Ukrainian guidelines on AD. The patients were randomized in 2 groups depending on AD age of onset: 67 patients had AD start in early childhood and puberty, 56 patients – in adulthood. Precise medical history of the patients, clinical symptoms were collected. The disease severity was evaluated with SCORAD index and itch severity scale. Results were analyzed using parametric and nonparametric statistical tools. Results. Depending on age of AD onset patients demonstrated some differences in diagnostic criteria positivity, past and actual clinical features of the disease, cooperation with health system specialists. Among major AD diagnostic criteria personal or family history of atopy and flexural lichenification in adults were detected as variable signs of the disease depending on age of onset. Family history of atopy stayed hidden information for part of the patients and could not be verified. The most often minor criteria detected positive and used for AD diagnosis in adults were xerosis, itching when sweating, facial pallor or erythema and white dermographism, with their different frequency among groups. 17,9% of cases in childhood and 25% of cases in adults were not initially recognized as AD and managed as another skin disease for months or years. Skin itch as constant sign of AD is provoked by different triggered with high prevalence of emotional stress in adult-onset AD and different frequency of contact triggers among groups. Emotional trauma was considered by the patients as a major trigger of mild relapses in adult-age AD and moderate relapses in early-age AD. Constant and severe xerosis was more common for patients with AD onset in childhood and was mostly not a significant impacting issue for adult-aged AD. Secondary pyoderma accompanies AD relapses of both groups. 100% of examined patients had experience of self-treatment with topical and systemic medications. Physical modalities of treatment (sunbathing, change of climate etc.) are less often of adult-age AD patients’ choice and provide good results more for early onset AD patients. Steroid-phobia was observed in patients with early disease onset only and is not an issue for adult-age AD patients. Conclusions. Diagnostic criteria stay an important tool for diagnosing AD. Adult patients may demonstrate different set of positive major and minor criteria depending on time of the disease onset. Established diagnosis of AD may not correspond to first manifestation of the disease that is possible both in childhood and adult patients. Prognosing of AD course in adults may depend on general duration of the disease: starting in childhood AD more often has seasonal relation, constant xerosis, irritation by sweeting; patients have long experience of moisturizers and physical treatments use. If started in adulty AD more often aggravates due to emotional and occupational triggers, then others; long-term use of moisturizers more probably would be neglected by the patient.

Discriminatory analysis in determination of high risk of gastric cancer

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 1540-1540
Author(s):  
S. A. Terekhova ◽  
A. F. Lazarev ◽  
V. D. Petrova ◽  
T. V. Sinkina ◽  
I. A. Selezneva ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
High Risk ◽  
Clinical Symptoms ◽  
Canonical Function ◽  
Fresh Vegetables ◽  
Integral Rate ◽  
History Of ◽  
Discriminatory Analysis

1540 Background: Determination of the high risk of gastric cancer and target examination of patients from high-risk groups makes early detection of gastric cancer possible and contributes to the decrease of mortality rates as the outcome of gastric cancer treatment is primarily dependant on the stage of disease. Methods: 700 patients with gastric cancer and 1069 persons without any oncopathology referred to Altay oncological center for consultation in 2002–2004 were interviewed and examined to get the data on different factors known as risk factors for gastric cancer (endogenic, environmental, lifestyle, nutritive factors, results of blood-tests and non-oncological stomach diseases, etc.). Results: By means of discriminatory analysis from 131 investigated factors there were 26 factors distinguished and corresponding coefficients of canonical function of discrimination calculated, on the basis of which the prognosis of gastric cancer development may be ascertained (p<0.001): age, body mass, education, duration of stress, insomnia, extrasleep during daylight hours, family history of gastric cancer, family history of cancer, presence of clinical symptoms, lifetime history of smoking, usage of strong spirits, amount of spirits used per month, regularity of nutrition (eating patterns), time intervals between food intakes, variety of food allowance, usage of food and drinks of high temperature, animal fats, spicy food, canned and preserved food, bakery, strong black tea and coffee, fresh vegetables and fruit, sour milk products, green tea, level of haemoglobin, ESR. Multiplying the interval values of those significant factors and corresponding coefficients of canonical function of discrimination and subsequent summarizing of the results and the constant gives an <<integral rate>>, the positive value of which is the evidence of high risk of gastric cancer either to be developed or already exists. Negative integral rate is the evidence of low risk. Cross check up showed the 95.1% test-sensitivity and 95.0% test-specificity. Conclusions: Thus, the value of the integral rate can be used as a criterion for selection of concrete patients with high risk of gastric cancer to be deeply examined and to be under monitoring for detection of early gastric cancer. No significant financial relationships to disclose.

scholarly journals Macular Thickness Decrease in Asymptomatic Subjects at High Genetic Risk of Developing Alzheimer’s Disease: An OCT Study

2020 ◽  
Vol 9 (6) ◽  
pp. 1728
Author(s):  
Inés López-Cuenca ◽  
Rosa de Hoz ◽  
Elena Salobrar-García ◽  
Lorena Elvira-Hurtado ◽  
Pilar Rojas ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Clinical Symptoms ◽  
Plexiform Layer ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
High Genetic Risk ◽  
History Of

In this case control study, we examined the retinal thickness of the different layers in the macular region and peripapillary retinal nerve fiber layer (RNFL) with optical coherence tomography (OCT) in healthy cognitive subjects (from 51 to 74 years old) at high genetic risk for developing Alzheimer’s disease (AD). Thirty-five subjects with a family history of Alzheimer disease (AD) (FH+) and ApoE ɛ4 carriers and 29 age-matched control subjects without a family history of AD (FH−) and ApoE ɛ4 non-carriers were included. Compared to FH− ApoE ɛ4 non-carriers, in FH+ ApoE ɛ4 carriers, there were statistically significant decreases (p < 0.05) in (i) the foveal area of mRNFL; (ii) the inferior and nasal sectors in the outer and inner macular ring in the inner plexiform layer (IPL); (iii) the foveal area and the inferior sector in the outer macular ring in the inner nuclear layer (INL); and (iv) the inferior sector of the outer macular ring in the outer plexiform layer (OPL). However, no statistically significant differences were found in the peripapillary thickness of RNFL between both study groups. In subjects with cognitive health and high genetic risk for the development of AD, initial changes appeared in the macular area. OCT could be a promising, cost-effective and non-invasive test useful in early AD, before the onset of clinical symptoms.

scholarly journals Evaluation of Subclinical Hypothyroidism in Children and Adolescents: A Single-Center Study

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Kamila Such ◽  
Aneta Gawlik ◽  
Aleksandra Dejner ◽  
Malgorzata Wasniewska ◽  
Agnieszka Zachurzok ◽  
...  
Keyword(s):  
Family History ◽  
Subclinical Hypothyroidism ◽  
Clinical Symptoms ◽  
Positive Family History ◽  
Analysis Data ◽  
Overt Hypothyroidism ◽  
Treatment Indications ◽  
Single Center Study ◽  
History Of

The main purpose of our retrospective study was to evaluate the medical care of the patients with subclinical hypothyroidism (sHT) and to investigate the rationale for administering L-thyroxine (LT-4) to young sHT patients.Patients and Methods. Based on a retrospective review of the charts of 261 patients referred to the Endocrinology Outpatient Clinic between 2009 and 2014 with suspicion of sHT, 55 patients were enrolled for further analysis. Data collected was baseline age, anthropometric measurements, serum TSH, fT4, fT3, anti-thyroid autoantibodies, positive family history, absence/presence of clinical symptoms, length of follow-up, and data concerning LT-4 therapy (therapy: T1; no therapy: T0).Results. T1 encompassed 33 (60.0%) patients. There were no differences between T1 and T0 (p>0.05) with regard to age, TSH concentrations, BMIZ-score, and hSDS values, though follow-up was longer in T1 (p<0.01). Four (11.8%) children in T1 and none in T0 had a positive family history of thyroid disorders. Fifteen (68.2%) patients in group T0 became euthyroid. One (1.8%) girl (T1) developed overt hypothyroidism.Conclusions. A small percentage of patients can proceed to overt hypothyroidism. Only positive family history seemed to influence the decision to initiate LT-4 therapy. Further prospective studies are warranted in order to establish treatment indications, if any, and the mean recommended dosage of LT-4.

scholarly journals Four subtypes of childhood allergic rhinitis identified by latent class analysis

2021 ◽  
Author(s):  
S. Tolga Yavuz ◽  
Ceyda Oksel Karakus ◽  
Adnan Custovic ◽  
Ömer Kalaycı
Keyword(s):  
Allergic Rhinitis ◽  
Family History ◽  
Latent Class Analysis ◽  
Latent Class ◽  
Clinical Symptoms ◽  
Allergic Sensitization ◽  
Class Analysis ◽  
Data Set ◽  
Class 1 ◽  
History Of

Background: Childhood allergic rhinitis (AR) is clinically highly heterogeneous. We aimed to identify distinct subgroups amongst children with AR, and to ascertain their association with patterns of symptoms, allergic sensitization and concomitant physician-diagnosed asthma. Methods: We recruited 510 children with physician-diagnosed AR, of whom 205 (40%) had asthma. Latent class analysis (LCA) was performed to identify latent structure within the data set using 17 variables (allergic conjunctivitis, eczema, asthma, family history of asthma, family history of allergic rhinitis, skin sensitization to 8 common allergens, tonsillectomy, adenoidectomy). Results: A four−class solution was selected as the optimal model based on statistical fit. We labeled AR latent classes as: (1) AR with grass mono-sensitization and conjunctivitis (n=361, 70.8%); (2) AR with house dust mite sensitization and asthma (n=75, 14.7%); (3) AR with pet and grass polysensitization and conjunctivitis (n=35, 6.9%) and (4) AR among children with tonsils and adenoids removed (n=39, 7.6%). Perennial AR was significantly more common among children in Class 2 (OR 5.83, 95%CI 3.42−9.94, p<0.001) and Class 3 (OR 2.88, 95%CI 1.36−6.13, p=0.006). Mild and intermittent AR symptoms were significantly more common in children in Class 3 compared to those in Class 1. AR was more severe in Class 1, compared to other 3 classes, indicating that upper respiratory symptoms are more severe among children with isolated seasonal rhinitis, than in those with rhinitis and coexisting asthma. Conclusion: We have identified 4 phenotypes in school-age children with AR, which were associated with different patterns of clinical symptoms and comorbidities.

scholarly journals Rates and Risk Factors for Suicide Ideas among Schizophrenia Patients in Indonesia

2019 ◽  
Vol 7 (16) ◽  
pp. 2579-2582
Author(s):  
Nurmiati Amir ◽  
Ronald Antoni ◽  
Asmarahadi Asmarahadi ◽  
Prianto Djatmiko ◽  
Siti Khalimah ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Suicide Attempts ◽  
Clinical Symptoms ◽  
Demographic Data ◽  
Disease Onset ◽  
Multivariate Logistic Regression Analysis ◽  
High Rate ◽  
Factors Associated ◽  
History Of

BACKGROUND: Schizophrenia is associated with a high rate of suicide. AIM: Our study was aimed to identify the rates of suicide ideas in patients with schizophrenia as well as the risk factors associated with suicide ideas. METHODS: As many as 1130 subjects were evaluated using the Indonesian version of Diagnosis Interview for Psychosis (DIP) to establish the diagnosis of schizophrenia. Subjects aged 18-65 years. The risk factors were socio-demographic data, mental disorder history in the family, clinical symptoms and clinical course of schizophrenia. Risk factors that have the strongest correlation with suicide ideas were analysed using multivariate logistic regression analysis. RESULTS: About 6.1% of subjects reported suicide ideas in their life. The age of disease onset (p = 0.006), family history of schizophrenia (p = 0.013), poor concentration (p = 0.032), loss of enjoyment (p = 0.000), guilty feeling (p = 0.000), family history of mental illness (p = 0.000), nihilistic delusion (p = 0.001) and alcohol abuse (p = 0.000) were significantly associated with suicide ideas. CONCLUSION: Suicide idea is quite common in people with schizophrenia. Evaluation and management of risk factors associated with suicide ideas should be performed to prevent suicide attempts or death. Suicide ideas and risk factors can become clinical parameters in the instrument of suicide prevention.

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