scholarly journals Benign paroxysmal torticollis in infancy – diagnostic error possibility

2017 ◽  
Vol 74 (5) ◽  
pp. 463-466
Author(s):  
Dragan Zlatanovic ◽  
Lidija Dimitrijevic ◽  
Anita Stankovic ◽  
Biljana Balov
Keyword(s):  
Family History ◽  
Migraine With Aura ◽  
Motor Development ◽  
Age Of Onset ◽  
Age At Onset ◽  
Family Members ◽  
Head Tilt ◽  
Diagnostic Error ◽  
Related Disorder ◽  
History Of

Background/Aim. Benign paroxysmal torticollis (BPT) is a rare paroxysmal dyskinesia characterized by attacks of head tilt alone or tilt accompanied by vomiting and ataxia, which may last hours to days. It is claimed that BPT disappears completely in childhood, but that it can evolve into other conditions, such as benign paroxysmal vertigo, cyclical vomiting syndrome, abdominal migraine, hemiplegic migraine, motion sickness and/or migraine with aura. The aim of this manuscript was to renew focus on benign paroxysmal torticollis because the disorder is almost always under-recognized by pediatric practitioners, who often order extensive and unrewarding testing and physiotherapy treatment. Methods. Twelve BPT cases observed during a 5-year period (2009?2014) at the Clinical Centre Nis, Nis, Serbia were reviewed. Data were collected on the features of torticollis, the age of onset, the duration of episodes, associated symptoms, the frequency of episodes, the persistence of symptoms over time, the age when the disorder finally disappeared, sequelae appearing after the 5th birthday, and family history of BPT, migraine or kinetosis. All the children were followed for periods ranging from 48 to 72 months. Results. The series included 6 females and 6 males. The age at onset of BPT was less than 8 months in 84% of the cases. Episodes of torticollis occurred suddenly on waking in all the cases without any trigger factors. The duration of torticollis ranged from a few hours to a few weeks. In 58% of cases, the condition persisted for more than one week. The frequency of the episodes ranged from once every 3 days to once every 25 days. The episodes were more frequent and lasted longer in the early months and tended to cease as the child became older. The age when episodes ended ranged from 11 months to 62 months. In 11 (91.66%) cases, the disorder disappeared before the patient's 5th birthday. No patient had a family history of BPT. In 6 cases, family members had kinetosis. In 5 cases, family members were positive for both migraine and kinetosis. All the children had normal motor development and normal speech and language development. After the disappearance of BPT, two children developed other forms of periodic syndromes: one boy had migraine with aura, and one girl experienced cyclic vomiting. Conclusion. BPT is probably an age-sensitive and migraine-related disorder that is benign in nature. The disorder is often misinterpreted, and children may pointlessly undergo numerous tests. Therefore, it is very important to recognize and observe this condition in order to avoid extensive, unnecessary and unpleasant procedures on the child.

scholarly journals Individual and familial characteristics of patients with podoconiosis attending a clinic in Musanze District, Rwanda: A retrospective study

2020 ◽  
Vol 114 (12) ◽  
pp. 947-953
Author(s):  
Jean Paul Bikorimana ◽  
Ursin Bayisenge ◽  
Tonya Huston ◽  
Eugene Ruberanziza ◽  
Jean Bosco Mbonigaba ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Age Of Onset ◽  
Age At Onset ◽  
Disease Onset ◽  
Patient Characteristics ◽  
Health Concern ◽  
Red Clay ◽  
Younger Age ◽  
History Of

Abstract Background Podoconiosis is a progressive swelling of the legs affecting genetically susceptible people who live in areas with irritant red clay soils and walk barefoot. The disease is a public health concern in many countries, including Rwanda. Methods This retrospective study described individual and familial characteristics of patients with podoconiosis attending the Heart and Sole Africa (HASA) clinics in Rwanda. Data on patient characteristics and family history were retrieved from electronic medical records (January 2013 – August 2019). A multiple regression analysis was used to explore factors influencing age of onset of podoconiosis. Results Among 467 patients with podoconiosis, the mean (standard deviation) age of onset was 34.4 (19.6) years, 139 (29.8%) patients developed podoconiosis at <20 years of age, 417 (89%) came from Musanze or neighboring Burera Districts, and 238 (51.0%) had a family history of podoconiosis. Increasing patient age was associated with older age at onset of disease (p<0.001), while an increased number of relatives with podoconiosis (p<0.002) was significantly associated with earlier disease onset. Conclusion Most patients with podoconiosis were women, and more than half had a family history of podoconiosis. An increased number of relatives with podoconiosis was associated with a significantly younger age at disease onset.

scholarly journals Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection

2019 ◽  
Vol 12 (6) ◽  
Author(s):  
Brooke N. Wolford ◽  
Whitney E. Hornsby ◽  
Dongchuan Guo ◽  
Wei Zhou ◽  
Maoxuan Lin ◽  
...  
Keyword(s):  
Family History ◽  
Aortic Dissection ◽  
Age Of Onset ◽  
Family Members ◽  
Aortic Disease ◽  
Pathogenic Variant ◽  
Carrier Status ◽  
Thoracic Aortic Dissection ◽  
Pathogenic Variants ◽  
History Of

Background: Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or family members. Methods: We performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity. Results: Twenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carriers had significantly earlier onset of dissection (41 versus 57 years), higher rates of root aneurysm (54% versus 30%), less hypertension (15% versus 57%), lower rates of smoking (19% versus 45%), and greater incidence of aortic disease in family members. Multivariable logistic regression showed that pathogenic variant carrier status was significantly associated with age <50 (odds ratio [OR], 5.5; 95% CI, 1.6–19.7), no history of hypertension (OR, 5.6; 95% CI, 1.4–22.3), and family history of aortic disease (mother: OR, 5.7; 95% CI, 1.4–22.3, siblings: OR, 5.1; 95% CI, 1.1–23.9, children: OR, 6.0; 95% CI, 1.4–26.7). Conclusions: Clinical genetic testing of known hereditary thoracic aortic dissection genes should be considered in patients with a thoracic aortic dissection, followed by cascade screening of family members, especially in patients with age-of-onset <50 years, family history of thoracic aortic disease, and no history of hypertension.

scholarly journals Head Tremor in Cervical Dystonia

2000 ◽  
Vol 27 (2) ◽  
pp. 137-142 ◽  
Author(s):  
P.K. Pal ◽  
A. Samii ◽  
M. Schulzer ◽  
E. Mak ◽  
J.K.C. Tsui
Keyword(s):  
Family History ◽  
Genetic Association ◽  
Cervical Dystonia ◽  
Age At Onset ◽  
Positive Family History ◽  
Head Tilt ◽  
The Body ◽  
Hand Tremor ◽  
Head Tremor ◽  
History Of

ABSTRACT:Objective:To compare the clinical characteristics, natural history, and therapeutic outcome of patients with cervical dystonia (CD) with head tremor (HT+) and without head tremor (HT-).Methods:We prospectively evaluated 114 consecutive patients of CD over a 9-month period with a detailed questionnaire. Chi-square and t-tests were employed for statistical analysis.Results:Seventy-eight (68.4%) patients had head tremor and 27 of them (34.6%) had tremor as one of the first symptoms. Age at onset of symptoms were similar in HT+ and HT- groups; however there was a higher prevalence in women in the former group (66.7% vs. 41.7%; p=0.01). HT+ patients had more frequent positive family history of essential-like hand/head tremor (21.8% vs. 5.5%; p<0.05), associated neck pain (92.3% vs. 77.8%; p<0.05), and essential-like hand tremor (40% vs. 8.3%; p<0.001). They also appeared to have more frequent history of preceding head/neck trauma (14.1% vs. 8.3%), frequent head rotation (88.5% vs. 69.4%) and antecollis (12.8% vs. 5.5%) but less often head tilt (37.2% vs. 47.2%) and gestes antagonistes (60.2% vs. 75%) than the HT- patients; however these differences were not statistically significant. The frequency of prior psychiatric illnesses, the incidence of dystonias in other parts of the body, frequency of retrocollis and shoulder elevation, and spontaneous remission were similar in the two groups.Conclusions:Head tremor is common in CD and is more commonly associated with hand tremor and family history of tremor or other movement disorders. This supports a possible genetic association between CD and essential tremor (ET). Linkage studies are required to evaluate the genetic association between CD and ET.

A French family study of two groups of alcoholic men

1992 ◽  
Vol 7 (2) ◽  
pp. 61-69
Author(s):  
F Amiel-Lebigre ◽  
M Duyme ◽  
S Tordjman
Keyword(s):  
Family History ◽  
Family Study ◽  
Age Of Onset ◽  
Age At Onset ◽  
Psychiatric History ◽  
The Family ◽  
History Of ◽  
French Family ◽  
Second Degree

SummaryAlcoholic and psychiatric family history were investigated in two groups of alcoholics, recruited differently, and controls. Alcoholics with or without a family history of alcoholism (AFH + and AFH − ) were compared with regard to professional qualifications, personal psychiatric history, age at onset and reasons given for becoming alcoholic. The results can be summarized as follows: the family ‘aggregate’ of alcoholism found was independent of the recruitment. This was not the case for personal psychiatric history for which a gradient was found in the two alcoholic groups. Rates of alcoholism were higher in both the first and second degree relatives. Alcoholics with AFH+ and AFH− differed significantly with regard to inducement by profession, and tended to differ as to age of onset.

scholarly journals Linking migraine frequency with family history of migraine

Cephalalgia ◽  
2018 ◽  
Vol 39 (2) ◽  
pp. 229-236 ◽  
Author(s):  
Nadine Pelzer ◽  
Mark A Louter ◽  
Erik W van Zwet ◽  
Dale R Nyholt ◽  
Michel D Ferrari ◽  
...  
Keyword(s):  
Family History ◽  
Migraine With Aura ◽  
Genetic Disorder ◽  
Linear Regression Analysis ◽  
Age At Onset ◽  
Genetic Load ◽  
Migraine Frequency ◽  
History Of ◽  
Complex Genetic Disorder ◽  
Acute Headache

Background Migraine is a complex genetic disorder that is brought about by multiple genetic and environmental factors. We aimed to assess whether migraine frequency is associated with genetic susceptibility. Methods We investigated in 2829 migraine patients (14% males) whether ‘migraine frequency’ (measured as the number of migraine days per month) was related to ‘genetic load’ (measured as the number of parents affected with migraine) using a validated web-based questionnaire. In addition, we investigated associations with age-at-onset, migraine subtype, use of acute headache medication, and comorbid depression. Results We found an association between the number of migraine days per month and family history of migraine for males ( p = 0.03), but not for females ( p = 0.97). This association was confirmed in a linear regression analysis. Also, a lower age-at-onset ( p < 0.001), having migraine with aura ( p = 0.03), and a high number of medication days ( p = 0.006) were associated with a stronger family history of migraine, whereas lifetime depression ( p = 0.13) was not. Discussion Migraine frequency, as measured by the number of migraine days per month, seems associated with a genetic predisposition only in males. A stronger family history of migraine was also associated with a lower age-at-onset, a higher number of medication days, and migraine with aura. Our findings suggest that specific clinical features of migraine seem more determined by genetic factors.

scholarly journals Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Late Onset ◽  
Molecular Characteristics ◽  
Family History Of Cancer ◽  
Molecular Features ◽  
Age Of Diagnosis ◽  
History Of ◽  
History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Season of birth interacts with measures of inbreeding in multiplex schizophrenia pedigrees: evidence from genetic isolates in Daghestan

Open Medicine ◽  
2006 ◽  
Vol 1 (4) ◽  
pp. 392-398
Author(s):  
Kazima Bulayeva ◽  
John McGrath
Keyword(s):  
Genetic Diversity ◽  
Family History ◽  
Age Of Onset ◽  
Population Genetic Study ◽  
Season Of Birth ◽  
High Genetic Diversity ◽  
Low Genetic Diversity ◽  
High Prevalence ◽  
History Of ◽  
Genetic Isolates

AbstractWhile the season-of-birth effect is one of the most consistent epidemiological features of schizophrenia, there is a lack of consistency with respect to the interaction between season of birth and family history of schizophrenia. Apart from family history, measures related to consanguinity can be used as proxy markers of genomic heterogeneity. Thus, these measures may provide an alternate, indirect index of genetic susceptibility. We had the opportunity to explore the interaction between season of birth and measure of consanguinity in well-described genetic isolates in Daghestan, some of which are known for their relatively high prevalence of schizophrenia. Our previous population-genetic study showed Daghestan has an extremely high genetic diversity between the ethnic populations and a low genetic diversity within them. The isolates selected for this study include some with more than 200 and some with less than 100 generations of demographical history since their founding. Based on pedigrees of multiply-affected families, we found that among individuals with schizophrenia, the measure of consanguinity was significantly higher in the parents of those born in winter/spring compared to those born in summer/autumn. Furthermore, compared to summer/autumn born, winter/spring born individuals with schizophrenia had an earlier age-of-onset, and more prominent auditory hallucinations. Our results suggest that the offspring of consanguineous marriages, and thus those with reduced allelic heterogeneity, may be more susceptible to the environmental factor(s) underpinning the season-of-the effect in schizophrenia.

scholarly journals Clinical, epidemiological and autoimmune associations in childhood vitiligo in Qatar

2020 ◽  
Vol 6 (2) ◽  
pp. 151
Author(s):  
Haya Al Mannai ◽  
Mohamed Allam ◽  
Hassan Riad
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Age Of Onset ◽  
Positive Family History ◽  
Thyroid Peroxidase ◽  
Base Line ◽  
Adult Onset ◽  
Prognostic Features ◽  
History Of ◽  
The Mean

<p class="abstract"><strong>Background:</strong> Childhood vitiligo although clinically similar to adult onset vitiligo but it has distinct clinical, epidemiological and prognostic features compared to adult onset vitiligo.</p><p class="abstract"><strong>Methods:</strong> This is a retrospective study that was carried out on 85 pediatric patients up to age of 18 years old with the diagnosis of vitiligo, where the clinical and epidemiological data  including clinical type of vitiligo, family history of autoimmune diseases like thyroid disorders and diabetes mellitus and laboratory results including anti-thyroid peroxidase antibodies (anti-TPO antibodies), anti-parietal cell antibodies, antinuclear antibodies (ANA), Vitamin D and Vitamin B12 were retrieved from the files of these patients.<strong></strong></p><p class="abstract"><strong>Results:</strong> The mean age of the children affected by vitiligo was 10.4 years, the mean age of onset of vitiligo was 5.4 years, 54 (63.5%) percent were girls and 31 (36.5%) were boys. A positive family history of vitiligo was found in 44.7% of the participants, family history of DM was found in 64.7% of patients and family history of thyroid disease was found in 32.9% of the participants. The prevalence of thyroid autoimmunity was found to be in 22.4% of total participants.</p><p class="abstract"><strong>Conclusions:</strong> Childhood vitiligo has distinct clinical features, more common family history for autoimmune diseases and thyroid autoantibodies rather than overt clinical diseases, which raise the necessity to perform a routine initial immunological and thyroid screening in children with vitiligo and to repeat them at annual bases if there were abnormal values at base line or strong family history.</p>

632 Family History of Children Diagnosed with Obstructive Sleep Apnea

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A248-A248
Author(s):  
Kristi Porterfield-Pruss ◽  
Denise Willis ◽  
Beverly Spray ◽  
Supriya Jambhekar
Keyword(s):  
Family History ◽  
Family Members ◽  
Biological Father ◽  
Medical Problems ◽  
Obstructive Sleep ◽  
Familial Association ◽  
History Of ◽  
The Mean ◽  
Relationship Of ◽  
The Relationship

Abstract Introduction Limited evidence suggests a familial association of OSA. It is not known how often children who require positive airway pressure (PAP) devices have a family member with OSA or that requires PAP. It is felt that PAP adherence in children is affected by PAP adherence in parents. We wanted to explore the relationship of OSA in children requiring PAP to OSA in immediate family members as well as the association of obesity and adherence between children and family members. Methods Caregivers of children who utilize PAP devices at home were invited to complete an electronic questionnaire regarding family history of OSA. Descriptive statistics were utilized to summarize results. Results The study was completed by 75 participants. The majority of children were male (64%, 48/75), black (47%, 35/75) and non-Hispanic (88%, 66/75). The mean age was 11.8 years (median 13) and mean BMI was 32.8 (median 29.8). The mean AHI on the diagnostic polysomnogram was 28.4 events per hour (median 15.3). Mean adherence to PAP &gt; 4 hours per night was 56.5 (Median 68.2). Most, 87% (65/75), have other underlying medical problems. Twenty-four percent (18/75) have a biological father with OSA of whom 61% (11/18) are considered moderately/extremely obese. Of mothers, 13% (10/75) have OSA and 70% (7/10) are obese. Overall, 29% (22/75) had either a paternal (11%, 8/75) or maternal (19%, 14/75) grandfather with OSA of which 36% (8/22) are obese. For grandmothers, 31% (23/75) have OSA and 22% (5/23) are obese with more being paternal (19%, 14/75) compared to maternal (12%, 9/75). Of the 73 total family members reported to have OSA, 86% (63/73) use PAP and most (65%, 41/63) use it for &gt; 4 hours every night. Few participants had siblings with OSA. Conclusion There were more fathers with OSA than mothers, but mothers were reported to be obese more often. Grandparents were reported to have OSA but were reported to be obese less often than parents. Maternal grandparents with OSA were reported to be obese more than paternal grandparents. The majority of family members with OSA who use CPAP report nightly use. Support (if any):

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