scholarly journals Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis

2017 ◽  
Vol 11 (1) ◽  
pp. 85-88 ◽  
Author(s):  
Jean Louis Frossard ◽  
Michael A. Morris
Keyword(s):  
Abdominal Pain ◽  
Chronic Pancreatitis ◽  
Family History ◽  
Early Onset ◽  
Recurrent Abdominal Pain ◽  
Trypsin Activity ◽  
Chronic Calcifying Pancreatitis ◽  
History Of ◽  
Calcifying Pancreatitis

The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. SPINK1 mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain and search for the cause of chronic calcifying pancreatitis, who was found to carry 2 SPINK1 mutations.

Abdominal Migraine: A Childhood Syndrome Defined

Cephalalgia ◽  
1986 ◽  
Vol 6 (4) ◽  
pp. 223-228 ◽  
Author(s):  
David NK Symon ◽  
George Russell
Keyword(s):  
Abdominal Pain ◽  
Family History ◽  
Diagnostic Criteria ◽  
Recurrent Abdominal Pain ◽  
Nausea And Vomiting ◽  
Degree Relative ◽  
Migraine Therapy ◽  
Abdominal Migraine ◽  
History Of ◽  
Marked Relief

It has long been recognized that some cases of recurrent abdominal pain in children are related to migraine, but the diagnostic criteria for abdominal migraine have not been defined. We have identified a group of children with recurrent abdominal pain who had a family history of migraine—in over half the cases in a first-degree relative—and who obtained marked relief from their symptoms from specific anti-migraine therapy. These children had a well-defined syndrome comprising episodes of midline abdominal pain of sufficient severity to interfere with normal activities and lasting for prolonged periods, frequently accompanied by pallor, headache, anorexia, nausea, and vomiting. It is proposed that these children have “abdominal migraine”.

scholarly journals Laparoscopic reduction and repair of a left paraduodenal hernia

2019 ◽  
Vol 12 (12) ◽  
pp. e232098 ◽  
Author(s):  
Takashi Sakamoto ◽  
Alan Kawarai Lefor
Keyword(s):  
Abdominal Pain ◽  
Laparoscopic Repair ◽  
Recurrent Abdominal Pain ◽  
Paraduodenal Hernia ◽  
Enhanced Ct ◽  
History Of ◽  
Congenital Internal Hernia ◽  
Continuous Closure ◽  
Hernia Orifice ◽  
Similar Episode

Left paraduodenal hernias are the most common type of congenital internal hernia, but they are difficult to diagnose without appropriate imaging. A 79-year-old man with a history of recurrent abdominal pain had another similar episode of abdominal pain, which prompted him to seek evaluation. The pain resolved spontaneously on arrival to the hospital. Enhanced CT scan showed the characteristic findings of a left paraduodenal hernia and laparoscopic repair was undertaken. The small intestine was reduced successfully, and the hernia orifice was approximated with a continuous closure. He was discharged uneventfully 4 days after admission. The characteristic clinical and imaging findings of paraduodenal hernias are reviewed. Laparoscopic repair is reasonable in patients who have a paraduodenal hernia without intestinal ischemia.

scholarly journals Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study

2018 ◽  
Vol 16 (1) ◽  
pp. 17-23
Author(s):  
Manoj Kumar Chaudhary ◽  
Sudha Agrawal ◽  
Chandra Shekhar Agrawal
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Prostatic Hyperplasia ◽  
Androgenetic Alopecia ◽  
Pelvic Ultrasonography ◽  
Increased Risk ◽  
History Of ◽  
Common Pathogenesis

Introduction: Androgenetic alopecia (AGA) is associated with increased risk of several systemic diseases and some environmental factors, however, controversies exist. Since AGA and Benign Prostatic Hyperplasia (BPH) share common pathogenesis and AGA manifests some decades before BPH onset, it may serve as an early marker of BPH.Objective: This study was conducted to know AGA and its association with BPH in men ≥20 years of age.Materials and Methods: Clinically diagnosed cases of AGA (n=176) and 117 age matched healthy controls were enrolled. All cases and controls were subjected for abdomino-pelvic ultrasonography, urinary flowmetry, fasting lipid profiles, glycemic index and body mass index. International Prostate Symptom Score (IPSS) was also assessed.Results: Among 176 patients, 120 (68.18%) had Hamilton-Norwood grade III AGA and 56 (31.82%) had grade IV-VII AGA. In both groups, 140 (79.55%) cases and 93 (79.49%) controls were aged <35 years respectively. Family history of AGA was present in 108 (61.36%) cases and 2 (1.71%) controls. This observation was statistically significant with OR= 89.61 (95%CI 23.67-339.29). Three (1.7%) cases and none of the controls had prostate volume >30ml. Seventeen(9.66%) cases and 4 (3.42%) controls were graded as moderately/severely symptomatic IPSS. Statistically significant association was seen between family history and early onset of hair loss (<35 years) in a male sibling or parent.Conclusion: Although positive family history was associated with early onset of AGA, no association between AGA and BPH could be elicited in our study.

scholarly journals The Characteristics of Risk Factors in Chinese Young Women with Acute Coronary Syndrome

2020 ◽  
Author(s):  
Ruifang Liu ◽  
Fangxing Xu ◽  
Yujie Zhou ◽  
Tongku Liu
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Young Women ◽  
Early Onset ◽  
Young Female ◽  
Cardiac Insufficiency ◽  
Control Group ◽  
Significant Difference ◽  
Gynecological Diseases ◽  
History Of

Abstract Background In recent years, the prevalence rate of ACS in Chinese young women has been increasing significantly, becoming the main cause of death in young female. This study aimed to investigate the characteristics and difference of risk factors in Chinese young women with ACS and to provide references for ACS prevention and treatment. Methods A 1:1 case-control study was conducted to evaluate risk factors of 415 young female patients with ACS (ACS group) who underwent PCI treatment and 415 young female cases without ACS (control group) who were hospitalized and confirmed by coronary angiography to exclude coronary heart disease from January 2010 to August 2016. The average age of the cases in the two groups was respectively (40.77±4.02) years-old and (40.57±4.01) years-old (P> 0.05). Results The risk factors in ACS group were overweight (64.10%), hypertension (49.88%), hyperlipidemia (35.66%), diabetes (23.37%), depression or anxiety disorder (16.62%), gynecological diseases (16.39%), Hyperuricemia (15.18%), family history of early onset coronary heart disease (14.94%), hyperhomocysteinemia (11.33%), hypothyroidism(14.96%), hypercholesterolemia (8.43%) and high c-reactive protein (7.47%), and were statistically significant difference (P<0.01) compared with that of control group. The average number of risk factors per case in ACS group was significantly more than that of control groups (P<0.01). There was a statistically significant difference in the number of combined risk factors of the overweight cases compared between two groups (P<0.01). Regression analysis showed that hyperlipidemia, hyperhomocysteinemia, overweight（obesity）, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases were independent risk factors (P<0.01). The bivariate correlation analysis between CRP level and age was r= -0.158 (P<0.01). This result showed the younger ACS patient is the higher serum CRP. Conclusion The independent risk factors of ACS in young women are hyperlipidemia, hyperhomocysteinemia, overweight, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases. The co-existence of multiple risk factors is the main cause suffering from ACS in young women.

scholarly journals Abdominal intussusception associated with coeliac disease: case report and literature review

2021 ◽  
Author(s):  
Rashid Hameed ◽  
Noshine Irrum ◽  
Subodhini P. Arachchige ◽  
Edwin Tan ◽  
Jacinta Tobin
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Literature Review ◽  
Coeliac Disease ◽  
Recurrent Abdominal Pain ◽  
Immune Infiltration ◽  
Disease Case ◽  
Classical Pattern ◽  
History Of

In genetically susceptible individuals, gluten ingestion triggers and immune infiltration and bowel damage in the classical pattern of coeliac disease, with variable symptoms. Intussusception is a condition where one segment of intestine ‘telescopes’ inside of another portion of intestine, which may cause symptoms of abdominal pain due to obstruction. Intussusception has been associated with coeliac disease. We report a 4-year-old girl presented with recurrent abdominal pain of variable severity and found to have intussusception on two occasions, which on both occasions reduced spontaneously during ultrasound examinations. She was later diagnosed with coeliac disease. This case highlights the importance of considering coeliac screening in patients with a history of recurrent abdominal pain and intussusception.

Case 5.1

2014 ◽  
pp. 245-246
Author(s):  
Christine U. Lee ◽  
James F. Glockner
Keyword(s):  
Diabetes Mellitus ◽  
Abdominal Pain ◽  
Signal Intensity ◽  
Recurrent Abdominal Pain ◽  
Iron Deposition ◽  
History Of ◽  
T2 Weighted Images

35-year-old man with a long history of diabetes mellitus and recent episode of peritonitis now presents with recurrent abdominal pain and fever Axial fat-suppressed FSE T2-weighted images (Figure 5.1.1) show multiple hyperintense lesions in the spleen. The diffuse, decreased signal intensity throughout the remainder of the spleen is due to hemosiderosis and iron deposition. Gadolinium-enhanced axial 3D SPGR images (...

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

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