Higher Frequency Of Family History Research Articles

Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV-positive JPS compared to DCV-negative JPS. Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group. A total of 124 children with JPS were included: 69 (56%) DCV-negative and 55 (44%) DCV-positive (53% SMAD4 and 47% BMPR1A) with a median (interquartile range [IQR]) follow-up of 4 (2.8-6.4) years. DCV-positive children were diagnosed at an older age compared to DCV-negative children [12 (8-15.7) years vs. 5 (4-7) years, respectively, p < 0.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, p < 0.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, p < 0.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, p = 0.002). The incidence rate ratio for the development of new colonic polyps was 6.15 (95% confidence interval 3.93-9.63, p < 0.001) in the DCV-positive group compared to the DCV-negative group, with an average of 12.2 versus 2 new polyps for every year of follow-up. There was no difference in the burden of polyps between patients with SMAD4 and BMPR1A mutations. This largest international cohort of pediatric JPS revealed that DCV-positive and DCV-negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status.

Family history and modifiable risk factors in early‐onset Alzheimer’s disease in southern Brazil.

AbstractBackgroundAlzheimer’s disease (AD) represents a burdensome health condition worldwide and has a highly clinical heterogeneity. In particular, the early‐onset presentations may be related to different risk factors and underlying pathological mechanisms. We aimed to compare the frequency of modifiable risk factors/family history of dementia in a sample of AD from a tertiary memory outpatient clinic in Southern Brazil.MethodWe reviewed the clinical data of patients clinically diagnosed with AD at the dementia outpatient clinic at the Hospital de Clínicas de Porto Alegre, Brazil, between 2014 and 2022. We collected sociodemographic, clinical, family history, and the presence of seven modifiable risk factors for dementia: hypertension, diabetes, alcohol abuse, tobacco use, traumatic brain injury, hearing loss and previous psychiatric illness. Differences between early (&lt; 65 years) and late‐onset AD were analyzed by Chi squared and Mann‐Whitney tests, with significance defined as p&lt;0.05. All analyses were made in the R.ResultsA total of 145 patients were evaluated, 96 (66.2%) female, mostly (80.7%) white and median (interquartile range, IQR) of 76 (69‐80) years in the first evaluation. Of these, 40 (27.6%) had early‐onset presentation, with age at onset of 59.3 (52.4 ‐ 63) years. The early‐onset group presented a higher frequency of family history of dementia with an autosomal dominant pattern, 7 (17.5%) vs 0 (p = 0.011), with two patients being diagnosed with PSEN1 mutations, and worse scores in Mini Mental State Examination (p = 0.034) at the first evaluation. The groups did not differ in years of formal education or disease duration at the first appointment. Except for a higher frequency of hypertension in the late‐onset group, 68 (64.8%) vs 18 (45%), p = 0.048, there was no difference in the other risk factors (Table 1).ConclusionIn our sample, the profile of risk factors was similar between early‐ and late‐onset AD presentations, but the early‐onset patients had a higher frequency of autosomal dominant dementia family history. Our results suggest that in our sample the genetic and modifiable risk factors are both associated with early‐onset presentations.

A first-trimester serum TSH in the 4-10 mIU/L range is associated with obstetric complications in thyroid peroxidase antibody-negative women.

The impact of mild subclinical hypothyroidism on pregnancy outcomes in TPOAb-negative women is poorly explored. The aim of the present study was the evaluation in a wide cohort of TPOAb-negative pregnant women the role of subclinical hypothyroidism (SCH) on several pregnancy outcomes. The study included women aged ≥ 18years with a singleton pregnancy without known thyroid disease with serum TSH concentration between 0.4 and 10 mIU/L and TPOAb negative. Data about clinical and demographic features were collected. A blood sample was drown to test TSH, TPOAb, ANA and ENA concentration. The mean uterine artery pulsatility index was measured. Risk of adverse obstetric and fetal outcomes was collected. The cohort included 2135 pregnant women. Pregnant women with TSH 4-10 mUI/L had a significantly higher frequency of family history of thyroid diseases, and personal history of celiac disease diseases, type 1 diabetes mellitus, rheumatic disease, antinuclear antibody (ANA) and anti-extractable nuclear antigen (ENA) positive tests. The risk for pre-eclampsia and small for gestational age (SGA) was significantly higher in pregnant women with first-trimester TSH 4-10 mIU/L. A first-trimester TSH serum level greater than 4 mIU/L was associated with a significant increase in the occurrence of abnormal uterine artery pulsatility index, with a more than threefold increase in the risk of developing pre-eclampsia and with the risk of SGA. In TPOAb-negative pregnant women, a first-trimester serum TSH level ranging from 4 to 10 mIU/L is significantly and independently linked to an increased uterine artery pulsatility index as well as to negative pregnancy outcomes such as pre-eclampsia, SGA and gestational diabetes.

Familial Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome; Is It a Separate Disease?

IntroductionPeriodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) is the most common periodic fever syndrome in the pediatric population, yet its pathogenesis is unknown. PFAPA was believed to be sporadic but family clustering has been widely observed.ObjectiveTo identify demographic and clinical differences between patients with PFAPA and a positive family history (FH+) as compared to those with no family history (FH−).MethodsIn a database comprising demographic and clinical data of 273 pediatric PFAPA patients treated at two tertiary centers in Israel, 31 (14.3%) had FH+. Data from patients with FH+ were compared to data from those with FH−. Furthermore, family members (FMs) of those with FH+ were contacted via telephone for more demographic and clinical details.ResultsThe FH+ group as compared to the FH− group had more myalgia (56 vs. 19%, respectively, p = 0.001), headaches (32 vs. 2%, respectively, p = 0.016), and a higher carrier frequency of M694V mutation (54% vs. 25%, respectively, p = 0.05). Colchicine was seen to be a more beneficial treatment for the FH+ group as compared to the FH− group; however, with no statistical significance (p = 0.096). FMs displayed almost identical characteristics to patients in the FH+ group except for greater arthralgia during flares (64 vs. 23%, respectively, p = 0.008), and compared to the FH− group they had more oral aphthae (68 vs. 43%, respectively, p = 0.002), myalgia/arthralgia (64 vs. 19%/16%, respectively, p < 0.0001), and higher rates of FH of Familial Mediterranean fever (FMF) (45 vs.15%, respectively, p = 0.003).ConclusionsOur findings suggest that patients with a FH+ likely experience a different subset of disease with higher frequency of family history of FMF, arthralgia, myalgia, and might have a better response to colchicine compared to FH−. Colchicine prophylaxis for PFAPA should be considered in FH+.

Hypertension in 172 Chinese Children: An 8-Year Retrospective Study.

We evaluated children with hypertension and compared those with essential and secondary (including renal and non-renal) hypertension. This retrospective study analyzed data from hypertensive children (age, 0-18 years) referred for treatment between January 2008 and December 2015. Demographic factors, causative factors, and medical treatments were evaluated. Treatment failure was defined as a systolic or diastolic blood pressure ≥95th percentile for age, gender, and height on three separate occasions, despite treatment. All patients not meeting the failure criteria were considered to have controlled hypertension. The control rate was defined as the proportion of patients with controlled blood pressure. Among 172 consecutive patients, 28% had essential hypertension and 72% had secondary hypertension. As compared with children with secondary hypertension, those with essential hypertension had a higher frequency of family history of hypertension (P<0.001), a higher body mass index (BMI) (P=0.001), lower frequency of proteinuria (P=0.003), lower uric acid (P=0.04), and lower triglyceride (P=0.048). The medications used in the controlled group were similar to those used in the uncontrolled group. Angiotensin-converting enzyme inhibitors (ACEIs) were only used in nephrogenic patients, and a higher rate of ACEI use seemed to increase control rates. Control rates did not significantly differ by age, number of drugs, or cause of hypertension. As compared with children with secondary hypertension, those with essential hypertension were more likely to have a family history of hypertension and had a higher BMI, lower frequency of proteinuria, and lower uric acid and triglyceride concentrations. Treatment guidelines for essential and secondary hypertension should be established for children of all ages.

Characterizing transdiagnostic premorbid biotypes can help progress in selective prevention in psychiatry.

Characterizing transdiagnostic premorbid biotypes can help progress in selective prevention in psychiatry.

P744 Epidemiology, clinical characteristics, evolution and treatments in newly diagnosed inflammatory bowel disease (IBD): Results from the nationwide EpidemIBD study of GETECCU

Abstract Background Very few studies have reported updated data on the incidence, clinical evolution and treatment of inflammatory bowel disease (IBD) in Europe. Aims i) To assess the incidence of IBD in Spain; ii) to describe the main epidemiological and clinical characteristics of patients at diagnosis and the evolution of the disease; and iii) to explore the use of drug treatments in the biological era. Methods Prospective and population-based nationwide registry. Adult patients diagnosed with IBD -Crohn’s disease (CD), ulcerative colitis (UC) or IBD unclassified (IBD-U)- during 2017 in all the 17 Spanish administrative regions were included and will be followed-up for 5 years after diagnosis. Treatment was grouped into 5 categories: mesalazine (oral or topical), steroids (intravenous, oral or topical), immunomodulators (thiopurines, methotrexate or cyclosporine), biologics (anti-TNF, vedolizumab or ustekinumab) and surgery. Results 3627 incident cases of IBD diagnosed during 2017 in 108 hospitals covering over 22 millions of adult inhabitants (about 50% of the Spanish population) comprise the study cohort (Table 1). The overall incidence (cases/100.000 person-years) was 16 for IBD, 7.5 for CD, 8 for UC, and 0.5 for IBD-U. Incidence of CD was somewhat higher in Central Spain, while that of UC was higher in Northern Spain (Asturias and Navarra) (Figure 1). About 46% of patients had CD and 50% UC. Diagnosis delay was longer in CD than in UC (5 vs. 2 months, p &amp;lt; 0.01). The proportion of patients with symptoms at diagnosis was higher in UC than CD (94 vs. 89%, p &amp;lt; 0.01). By contrast, those with CD vs. UC had higher frequency of family history of the disease (18 vs. 13%, p &amp;lt; 0.01), tobacco smoking (38 vs. 12%, p &amp;lt; 0.01) and extraintestinal manifestations (12 vs. 6%, p &amp;lt; 0.01). At diagnosis, 18% of CD patients had structuring or fistulising behaviour, and 69% of UC patients had extensive colitis or left-sided colitis. During a median of 12-month of follow-up, 28% of patients were hospitalised (35% of CD and 22% of UC patients, p &amp;lt; 0.01). A total of 2.6% CD patients progressed to a more severe phenotype, and 2% UC patients developed a more extensive involvement. The cumulative exposure to different treatments is shown in Figure 2. Conclusion The incidence of IBD in Spain is quite high and similar to that reported in Northern Europe. IBD patients require the use of substantial therapeutic resources, which are greater in CD than in UC, and much greater than previously reported. One third of patients are hospitalised in the first year after diagnosis and over 5% undergo surgery. These results highlight the high burden of IBD as well as some of the important challenges faced by clinicians and healthcare systems to manage this costly and complex disease.

Clinical association to FKBP5 rs1360780 in patients with depression.

The FKBP5 protein is of importance for the function of the glucocorticoid receptor. The purpose of the present study was to examine the possible association between the different genotypes of rs1360780 in the FKBP5 gene, and clinical symptoms in patients with unipolar depression. Seven hundred eighteen patients and 673 controls from the Danish Psychiatric Biobank were participated. No association was found between any genotype and diagnosis of unipolar depression. It was found that the group of depressed patients with the CC genotype showed significantly earlier start of treatment with medicine, had a significantly greater tendency to be treated with electroconvulsive therapy and showed a significantly higher frequency of family history of depression compared with the combined group of patients with the CT and TT genotypes. The only informations about controls were their sex and that they were recruited from the blood bank. The clinical data were not complete for all patients.

Ethnoracial differences in Alzheimer's disease from the FLorida Autopsied Multi-Ethnic (FLAME) cohort

IntroductionOur primary goal was to examine demographic and clinicopathologic differences across an ethnoracially diverse autopsy-confirmed cohort of Alzheimer's disease cases. MethodsA retrospective study was conducted in the Florida Autopsied Multi-Ethnic cohort on 1625 Alzheimer's disease cases, including decedents who self-reported as Hispanic/Latino (n = 67), black/African American (n = 19), and white/European American (n = 1539). ResultsHispanic decedents had a higher frequency of family history of cognitive impairment (58%), an earlier age at onset (median age of 70 years), longer disease duration (median of 12 years), and lower MMSE proximal to death (median of 4 points) compared with the other ethnoracial groups. Black decedents had a lower Braak tangle stage (stage V) and higher frequency of coexisting hippocampal sclerosis (21%); however, only hippocampal sclerosis differences survived adjustment for sex, age at onset, and disease duration. Neither Thal amyloid phase nor coexisting Lewy body disease differed across ethnoracial groups. DiscussionDespite a smaller sample size, Hispanics demonstrated longer disease duration with Alzheimer's disease, but not greater lifespan. Neuropathologic differences across ethnoracial groups supported differences in tau pathology distribution and coexisting hippocampal sclerosis, which may impact biomarker studies.

The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans

BackgroundAs a large-scale study of Koreans, we evaluated the association between BRCA mutation and the prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients.MethodsWe organized familial pedigrees of 2555 patients with breast cancer who underwent genetic screening for BRCA1/2 in Samsung Medical Center between January 2002 and May 2018. Families with a member that had a history of cancer other than of the breast or ovary were regarded positive for other primary cancer.ResultsThe median age of the population was 40 years (range, 19 to 82 years). BRCA mutation was detected in 377 (14.8%) of the patients. The BRCA-positive group had a higher frequency of family history of breast or ovarian cancer (p < 0.001), bilateral breast cancer (p = 0.021), and the male gender (p = 0.038). There were 103 (27.3%) patients who had multiple risk factors in the BRCA-positive group, while there were 165 (7.6%) patients who had multiple risk factors in the BRCA-negative group (p < 0.001). BRCA mutation was detected in 215 (11.7%) of the 1841 families without history of other primary cancers. Among the 714 families with histories of other primary cancers, 162 (22.7%) had BRCA mutation, and this was significantly more frequent (p < 0.001) than in those without a history. The occurrence of other primary cancers in families of high-risk patients was associated with a younger age at diagnosis (p = 0.044), bilateral breast cancer (p = 0.006), and BRCA mutations (p < 0.001). The most common site for the occurrence of another type of primary cancer was the stomach. In the BRCA-positive group, the proportional incidences of stomach, pancreas, colorectal, lung, and uterine cancer were 13.8, 4.0, 7.7, 8.8, and 5.0%, respectively; these were all relatively higher than those in the BRCA-negative group.ConclusionsWe confirmed that BRCA mutation was associated with having multiple risk factors and an increased prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients. Due to the possibility of inherited cancer risk, genetic counseling with options for risk assessment and management should be provided to both patients and families of BRCA mutation carriers.

Effect of cardiac rehabilitation programme following elective percutaneous coronary angiography on depressive symptoms: A cohort study

BackgroundDepression is a common condition in cardiac patients. We investigated the effect of cardiac rehabilitation on depressive symptoms as detected by Beck depression inventory II score (BDI) in patients who underwent percutaneous coronary intervention (PCI). MethodsIn this cohort, 95 patients met our criteria. Patients were then studied in two groups based on their participation in the rehabilitation program to rehabilitation (exposure) and the control (non-exposure) groups. The control group consisted of those who only participated in the introductory session and decided not to continue the program. Finally, demographic and clinical parameters as well as the BDI scores were compared between the study groups. ResultsData of 35 patients who completed rehabilitation program was compared with 60 patients who did not. There was no significant difference between the study groups regarding the demographic and clinical variables, except for a higher frequency of family history for CAD in the control group (p<0.001). The frequency of the patients with no or mild depression was significantly higher in the rehabilitation group than the controls (p=0.02). There was also a significant increase in the BDI score of the control group and a significant decrease in the rehabilitation group (p<0.001). After adjustment for confounders (family history and severity of CAD), not attending the rehabilitation program was a strong risk factor for depression (OR=10.8, 95% CI: 1.3, 88.5; P=0.027). ConclusionOverall, this study showed that not attending cardiac rehabilitation program following elective PCI was a risk factor for depression.

Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey.

Prospective evaluation of family history (FH) of glaucoma and FH of optic disc drusen (ODD) in patients with sonographically confirmed ODD. A total of 87 patients with ODD interviewed all their first-degree and second-degree relatives using a detailed questionnaire on whether an ophthalmologist had diagnosed or excluded glaucoma or ocular hypertension (OH). Using a second questionnaire, 62 of these patients also provided information about ODD in their FH. Control groups for FH of glaucoma consisted of 2170 patients with glaucoma or OH evaluated with the same methods and identical questions for FH of glaucoma in a previous study, and of 176 healthy individuals without glaucoma or ODD who were interviewed on family history of glaucoma. Glaucoma in FH was significantly more frequent in patients with ODD with an incidence of 20.7% compared with healthy controls with an incidence of 2.8%, and half as frequent as in glaucoma patients with an incidence of 40%. ODD in FH were found in 9.7% of patients with ODD. As there is a high frequency of family history of glaucoma in patients with ODD, evaluation of FH of ODD and FH of glaucoma is essential in patients with ODD. Glaucoma in FH of ODD patients requires intraocular pressure monitoring and whenever deemed beneficial timely initiation of intraocular pressure-lowering therapy.

ПСИХОТИЧЕСКИЕ РАССТРОЙСТВА У ЛИЦ, УПОТРЕБЛЯЮЩИХ СИНТЕТИЧЕСКИЕ КАННАБИНОИДЫ (СПАЙСЫ)

The study involved the group of patients (n = 40) with psychotic disorders who used synthetic cannabinoids (spice). Among the psychotic disorders according to ICD-10 we allocated intoxication delirium (F12.03; 35 %), schizophreniform disorder (F12.50; 60 %), disorder with predominantly manic psychotic symptoms (F12.55; 5 %). The average age of patients was 25.2 ± 4.4 years. Hereditary aggravation in patients who consume synthetic cannabinoids was presented by alcoholism and substance abuse (20 %), affective disorders (7.5 %), schizophrenia (5 %); personality disorders (10 %); suicides (2.5 %). The group of patients with intoxication with delirium had significantly higher frequency of family history of alcoholism and addiction to psychoactive substances compared with patients with schizophreniform disorder (p < 0.02). Clinic intoxication delirium was characterized by disturbance of consciousness (delirium, twilight) lasting from several hours to 2-3 days, psychomotor agitation, aggression, shouting certain phrases and words, anxiety, fear, visual hallucinations. In patients with acute schizophreniform disorder (24 patients; 60 %) symptoms consisted of a dominant affect (depressive, or mixed), productive psychopathological symptoms within the list of F20 headings of ICD-10. Productive syndromes were limited to verbal hallucinosis (true or its limiting variants) in the form of voiced (which discuss the patient's behavior, threaten him/her with death, offer advice), reference of persecutory delusion. The coming out of a psychotic state was characterized by short-term postpsychotic depression. Patients received detoxification therapy and also combined psychopharmacotherapy with the use of antipsychotics, antidepressants, tranquilizers, normotymics, nootropics.

A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population

Axillary osmidrosis (AO) is a common condition characterized by an offensive odor arising from apocrine gland secretions in the axillae that socially and psychologically impairs affected individuals. The exact aetiology of AO is still not fully understood, but genetic factors have been suggested to play an important role. Recently, a single nucleotide polymorphism (SNP) rs17822931 in the ABCC11 gene located on human chromosome 16q12.1 has been shown to be associated with AO. In this study, we genotyped rs17822931 in two independent samples of Chinese Hans including 93 AO individuals vs 95 controls and 81 AO individuals vs 106 controls by using SNaPshot Multiplex Kit. We confirmed the association for ABCC11 gene, showing that rs17822931-G was significantly associated with increased risk for AO (Pcombined = 1.42E-21, OR = 83.94, 95% CI = 83.03–84.85). We also found rs17822931 was associated with subphenotypes of AO. AO individuals carrying the risk allele G are more likely to show wet earwax (P = 2.40E-05), higher frequency of family history (P = 1.04E-02) and early age of onset (P = 3.81E-02). Our study concluded that the association of rs17822931 in the ABCC11 gene with AO was replicated in Chinese Han population.

Risk factors for suicide attempt: A retrospective study

IntroductionSuicide is a leading cause of death among adolescents.ObjectivesTo investigate suicidal behaviors among Italian adolescents.AimsTo assess the rates of suicidal ideation (SI) and suicide attempts (SA) and the associated risk factors in patients admitted to emergency department (ED) of the Bambino Gesù Children's Hospital.MethodsRetrospective study based on data of patients admitted to the ED from 1 January 2011 to 30 May 2016 who required a neuropsychiatric (NPI) consultation. We analyzed:– outcome of the NPI consultation (hospitalization or discharge);– risk factors for SA and SI;– methods employed for SA.ResultsThe number of NPI consultations for SI and SA increased from 6.45% in 2011 to 13.3% in 2015. More than 90% of consultations recommended hospitalization in the psychiatric unit (137 patient [66% female]; mean age of 15.5 ± 1.6 years) with average length of stay of 13.64 ± 10.63 days. Risk factors for SI and SA were non-suicidal self-injury, family conflicts and previous suicide attempts. Subjects evaluated for a SA reported a significantly higher frequency of family history of mood disorder (χ2 = 5.94; P = 0.02) and a comorbid substance abuse (χ2 = 4.49; P = 0.03) when compared with SI group. The method most frequently used to attempt suicide was ingestion of medications (52.83%).ConclusionsThere was an increasing demand of NPI consultation of SA and SI in the last years. A family history of mood disorder and a history of substance abuse are risk factors able to differentiate between SI and SA.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Overweight and obesity in children with congenital heart disease: combination of risks for the future?

BackgroundChildren who have unhealthy lifestyles are predisposed to develop hypertension, dyslipidemia and other complications. The epidemic of obesity is also affecting children with congenital heart disease. The aim of this study is to estimate the prevalence of obesity and describe associated risk factors, including family history in children with congenital heart disease.MethodsA cross-sectional study with 316 children and adolescents with congenital heart disease seen in an outpatient clinic of a reference hospital. Collected sociodemographic data included family history of chronic disease, dietary habits, laboratory tests (total cholesterol, HDL and LDL/cholesterol, triglycerides, fasting glucose, CRP, hematocrit and hemoglobin), and anthropometric assessment. Anthropometric data of the caregivers was self-reported.ResultsThe prevalence of excess weight was 26.9%. Altered levels of total cholesterol were observed in 46.9%, of HDL in 32.7%, LDL in 23.6% and of triglycerides levels in 20.0%. A higher frequency of family history of obesity (42.6%; p = 0.001), dyslipidemia (48.1%; p = <0.001), diabetes (47.4%; p = 0.002), hypertension (39.2%; p = 0.006) and ischemic disease (43.7%; p = 0.023), as well as significantly higher values of triglycerides (p = 0.017), glycemia (p = 0.004) and C-reactive protein (p = 0.002) were observed among patients with excess weight.ConclusionThe presence of modifiable risk factors and the variables associated to excess weight in this population was similar to that described in the literature for children without congenital disease. As these children already present the risks associated to heart disease, it is particularly important to promote a healthy lifestyle in this group.

Taquicardia postural ortostática en 15 pacientes: disautonomía compleja

Patients with postural orthostatic tachycardia syndrome (POTS) report dizziness, lightheadedness, weakness, blurred vision, and fatigue upon standing. The diagnosis of the syndrome is made when an orthostatic intolerance and tachycardia appear in the standing position. To report 15 patients with POTS. Review of Tilt test reports in a period of 15 years. Those reports in which orthostatic postural tachycardia and symptoms compatible with POTS appeared, were selected for analysis. We identified 15 patients (3.1% of all positive Tilt test reports) with compatible signs and symptoms. There was a lag of 8 -10 years between the onset of symptoms and the time of diagnosis. Most patients complained of orthostatic intolerance, dizziness and frequent fainting. Orthostatic tachycardia and symptoms occurred on average after 2.9 and 6.1 minutes, respectively,of staying in the standing position. These patients had a high frequency of family history of syncope orpresyncope (66% frequency) and hyper mobility syndrome (53% prevalence). Only 33% of the patients reported relief of their symptoms after being treated (most of them with fludrocortisone). Most patients that reported little or no relief, did not use medications or were treated for a short period. POTS syndrome is uncommon but disturbs quality of life of those who suffer it. Its association with hyper mobility syndromes must be investigated.

Endoscopic, clinicopathological features and prognosis of very young patients with gastric cancer

The number of clinical reports of very young (<35 years) patients with gastric cancer are limited. We aimed to investigate the endoscopic and clinicopathological features and long-term prognosis of this unique group of patients. A prospective endoscopy database review of all consecutive very young patients with gastric cancer was performed. The gender, age, clinical features, endoscopic and pathologic findings, and long-term survival of these very young patients were analyzed and compared with those of elderly patients. A total of 210 patients were included with a median age of 31 year, 60.0% was female, and 34.3% presented with alarm features, 19.0% reported family history of gastric cancer. 58.1% of these cancers were located in gastric body, 33.8% were located in the antrum. 63.8% of these cancers were found to be diffuse type; 18.1% of patients underwent curative surgical treatment, and the 5-year survival rate was 42.1%. The study describes that very young patients with gastric cancer were mainly females, who were less likely to present with alarm features, but had a high frequency of family history of gastric cancer; and the majority of these cancers were located in gastric body, and they had similar long-term prognosis compared with elderly counterparts if curative surgical resection was performed.

Psychosis and Dandy–Walker complex: report of four cases

Concurrence of psychosis and Dandy–Walker complex (DWC) has been reported in some medical literature. Here, we reported four patients with concurrent psychosis and DWC of all four subtypes. Some clinical features found were juvenile or young adult age onset, high frequency of family history of psychosis, atypical psychotic symptoms, and high prevalence of cognitive deficit and refractoriness to treatment, in line with the cases in previous reports. These findings might help further illuminate the role that the cerebellum plays in the etiology of schizophrenia or bipolar disorder.

Distinct distribution and prognostic significance of molecular subtypes of breast cancer in Chinese women: a population-based cohort study

BackgroundMolecular classification of breast cancer is an important prognostic factor. The distribution of molecular subtypes of breast cancer and their prognostic value has not been well documented in Asians.MethodsA total of 2,791 breast cancer patients recruited for a population-based cohort study were evaluated for molecular subtypes of breast cancer by immunohistochemical assays. Data on clinicopathological characteristics were confirmed by centralized pathology review. The average follow-up of the patients was 53.4 months. Overall and disease-free survival by molecular subtypes of breast cancer were evaluated.ResultsThe prevalence of the luminal A, luminal B, human epidermal growth factor receptor 2 (HER2), and triple-negative subtypes were 48.6%, 16.7%, 13.7%, and 12.9%, respectively. The luminal A subtype was more likely to be diagnosed in older women (P = 0.03) and had a stronger correlation with favorable clinicopathological factors (smaller tumor size, lower histologic grade, and earlier TNM stage) than the triple-negative or HER2 subtypes. Women with triple-negative breast cancer had a higher frequency of family history of breast cancer than women with other subtypes (P = 0.048). The 5-year overall/disease-free survival percentages for the luminal A, luminal B, HER2, and triple-negative subtypes were 92.9%/88.6%, 88.6%/85.1%, 83.2%/79.1%, and 80.7%/76.0%, respectively. A similar pattern was observed in multivariate analyses. Immunotherapy was associated with improved overall and disease-free survival for luminal A breast cancer, but reduced disease-free survival (HR = 2.21, 95% CI, 1.09-4.48) for the HER2 subtype of breast cancer.ConclusionsThe triple-negative and HER2 subtypes were associated with poorer outcomes compared with the luminal A subtype among these Chinese women. The HER2 subtype was more prevalent in this Chinese population compared with Western populations, suggesting the importance of standardized HER2 detection and anti-HER2 therapy to potentially benefit a high proportion of breast cancer patients in China.