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1.
Confl Health ; 10: 14, 2016.
Article in English | MEDLINE | ID: mdl-27307789

ABSTRACT

BACKGROUND: In recent years Europe has received an increasing influx of migrants, many of whom risked their lives crossing the Mediterranean Sea. In October 2013, Italy launched a search and rescue operation at sea in response to migrant deaths during the sea crossing. In August 2014, Médecins sans Frontières and the local Ministry of Health established an outpatient clinic at Augusta harbor, in Sicily, which received 26 % of total sea migrants arrived in Italy in 2014, to provide immediate medical assessment and care. METHODS: This is a descriptive study of demographic and clinical data of sea migrants seen at the port clinic in Augusta from August to December 2014. We compared migrants from Near Eastern, war-torn regions (Group 1) and the others, mostly African (Group 2), as there were significant differences in terms of demographic and morbidity profiles. RESULTS: There were 2593 migrants consulting the clinic (17 % af all rescued migrants) with 5 % being referred to hospital. Most were young males. The overall burden of vulnerability (pregnant women, children ≤5 years, unaccompanied minors, single parents with children of minor age, disabled and elderly persons) was 24 %. There were more small children, pregnant women, elderly, disabled, and persons with chronic diseases in Group 1, as compared to Group 2. Group 2 had more unaccompanied minors. Morbitidies in common were respiratory, dermatological, trauma-related and gastrointestinal conditions. However, acute and chronic cardiovascular disease, as well as diabetes, were more frequent in Group 1; chronic diseases affected 19 % of this group. Group 2 had more patients with skin diseases. Most migrants attributed their presenting symptoms to the perils of their journey. No risks for public health were detected. CONCLUSION: Among sea migrants, we identified two groups with different demographic and clinical characteristics, as well as vulnerability patterns. Overall morbidity suggested that the dangerous journey affected migrants' health. Medical activities at reception sites should include screening for vulnerability and chronic disease management. Ensuring medical care to migrants on arrival can address European humanitarian obligations and provide support to local medical facilities.

2.
J Clin Endocrinol Metab ; 100(1): E119-28, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25279498

ABSTRACT

CONTEXT: Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, which may present in the context of different familial multitumor syndromes. Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH. Whether this genetic condition also causes familial PMAH in association with other neoplasias is unclear. OBJECTIVE: The aim of the present study was to delineate the molecular cause in a large family with PMAH and other neoplasias. PATIENTS AND METHODS: Whole-genome sequencing and comprehensive clinical and biochemical phenotyping was performed in members of a PMAH affected family. Nodules derived from adrenal surgery and pancreatic and meningeal tumor tissue were analyzed for accompanying somatic mutations in the identified target genes. RESULTS: PMAH presenting either as overt or subclinical Cushing's syndrome was accompanied by a heterozygous germline mutation in ARMC5 (p.A110fs*9) located on chromosome 16. Analysis of tumor tissue showed different somatic ARMC5 mutations in adrenal nodules supporting a second hit hypothesis with inactivation of a tumor suppressor gene. A damaging somatic ARMC5 mutation was also found in a concomitant meningioma (p.R502fs) but not in a pancreatic tumor, suggesting biallelic inactivation of ARMC5 as causal also for the intracranial meningioma. CONCLUSIONS: Our analysis further confirms inherited inactivating ARMC5 mutations as a cause of familial PMAH and suggests an additional role for the development of concomitant intracranial meningiomas.


Subject(s)
Adrenal Cortex Diseases/genetics , Cushing Syndrome/genetics , Germ-Line Mutation , Meningeal Neoplasms/genetics , Meningioma/genetics , Tumor Suppressor Proteins/genetics , Adrenal Cortex Diseases/pathology , Adult , Armadillo Domain Proteins , Cushing Syndrome/pathology , Female , Humans , Hyperplasia/genetics , Hyperplasia/pathology , Male , Meningeal Neoplasms/pathology , Meningioma/pathology , Pedigree
3.
Endocr Rev ; 30(3): 241-63, 2009 May.
Article in English | MEDLINE | ID: mdl-19403887

ABSTRACT

Scientists have long hypothesized the existence of tissue-specific (somatic) stem cells and have searched for their location in different organs. The theory that adrenocortical organ homeostasis is maintained by undifferentiated stem or progenitor cells can be traced back nearly a century. Similar to other organ systems, it is widely believed that these rare cells of the adrenal cortex remain relatively undifferentiated and quiescent until needed to replenish the organ, at which time they undergo proliferation and terminal differentiation. Historical studies examining cell cycle activation by label retention assays and regenerative potential by organ transplantation experiments suggested that the adrenocortical progenitors reside in the outer periphery of the adrenal gland. Over the past decade, the Hammer laboratory, building on this hypothesis and these observations, has endeavored to understand the mechanisms of adrenocortical development and organ maintenance. In this review, we summarize the current knowledge of adrenal organogenesis. We present evidence for the existence and location of adrenocortical stem/progenitor cells and their potential contribution to adrenocortical carcinomas. Data described herein come primarily from studies conducted in the Hammer laboratory with incorporation of important related studies from other investigators. Together, the work provides a framework for the emerging somatic stem cell field as it relates to the adrenal gland.


Subject(s)
Adrenal Cortex/cytology , Stem Cells/cytology , Adrenal Cortex/embryology , Adrenal Cortex/physiology , Animals , Cell Differentiation/physiology , Clone Cells/cytology , Clone Cells/physiology , Humans , Organogenesis/physiology
4.
Cancer Cell ; 15(6): 465-76, 2009 Jun 02.
Article in English | MEDLINE | ID: mdl-19477426

ABSTRACT

Telomere dysfunction and shortening induce chromosomal instability and tumorigenesis. In this study, we analyze the adrenocortical dysplasia (acd) mouse, harboring a mutation in Tpp1/Acd. Additional loss of p53 dramatically rescues the acd phenotype in an organ-specific manner, including skin hyperpigmentation and adrenal morphology, but not germ cell atrophy. Survival to weaning age is significantly increased in Acd(acd/acd) p53(-/-) mice. On the contrary, p53(-/-) and p53(+/-) mice with the Acd(acd/acd) genotype show a decreased tumor-free survival, compared with Acd(+/+) mice. Tumors from Acd(acd/acd) p53(+/-) mice show a striking switch from the classic spectrum of p53(-/-) mice toward carcinomas. The acd mouse model provides further support for an in vivo role of telomere deprotection in tumorigenesis.


Subject(s)
Adrenal Cortex/abnormalities , Cell Transformation, Neoplastic/metabolism , Telomere-Binding Proteins/physiology , Tumor Suppressor Protein p53/physiology , Adrenal Cortex/metabolism , Animals , Carcinoma/metabolism , Carcinoma/pathology , Cell Transformation, Neoplastic/genetics , Cell Transformation, Neoplastic/pathology , Chromosomal Instability/genetics , Chromosomal Instability/physiology , Female , Lymphoma/metabolism , Lymphoma/pathology , Male , Mice , Mice, Transgenic , Organ Specificity , Phenotype , Sarcoma/metabolism , Sarcoma/pathology , Skin Neoplasms/metabolism , Skin Neoplasms/pathology , Skin Pigmentation/genetics , Skin Pigmentation/physiology , Spermatogenesis/genetics , Spermatogenesis/physiology , Telomere/genetics , Telomere/physiology , Telomere-Binding Proteins/genetics , Testis/pathology , Testis/physiopathology , Tumor Suppressor Protein p53/genetics
5.
Clin Neurophysiol ; 119(6): 1242-7, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18417419

ABSTRACT

OBJECTIVE: To analyze sleep architecture and NREM sleep alterations by means of the Cyclic Alternating Pattern (CAP) in children with Down syndrome (DS) and Fragile-X syndrome (fraX), the two most common causes of inherited mental retardation, in order to find out eventual alterations of their sleep microstructure related to their mental retardation phenotypes. METHODS: Fourteen patients affected by fraX (mean age 13.1 years) and 9 affected by Down syndrome (mean age 13.8 years) and 26 age-matched normal controls were included. All subjects underwent overnight polysomnography in the sleep laboratory, after one adaptation night and their sleep architecture and CAP were visually scored. RESULTS: FraX subjects showed a reduced time in bed compared to DS subjects, whereas DS subjects showed a lower sleep efficiency, a higher percentage of wakefulness after sleep onset, and a reduced percentage of stage 2 NREM compared to the other groups. Furthermore, DS and fraX subjects, compared to normal controls, showed a higher percentage of stage 1 NREM and a lower percentage of REM sleep. FraX subjects showed the most disrupted sleep microstructure with low total CAP rate and CAP rate in S2 NREM. Both patient groups showed a lower percentage of A1 and higher percentage of A2 and A3 compared to normal controls. CONCLUSIONS: The analysis of CAP might be able to disclose new important findings in the sleep architecture of children with mental retardation and might characterize sleep microstructural patterns of the different phenotypes of intellectual disability. SIGNIFICANCE: The NREM sleep microstructure alterations found in our subjects, associated with the reduction in REM sleep percentage, seem to be distinctive features of intellectual disability.


Subject(s)
Down Syndrome/complications , Fragile X Syndrome/complications , Phenotype , Polysomnography , Sleep Wake Disorders/etiology , Sleep/physiology , Adolescent , Adult , Child , Electroencephalography/methods , Female , Humans , Male , Statistics, Nonparametric
6.
Sleep Med ; 9(1): 64-70, 2007 Dec.
Article in English | MEDLINE | ID: mdl-17728182

ABSTRACT

OBJECTIVE: To evaluate sleep in children with autistic spectrum disorder (ASD) by means of sleep questionnaires and polysomnography; moreover, to analyze their cyclic alternating pattern (CAP). METHODS: Thirty-one patients with ASD (28 males, 3 females, aged 3.7-19 years) and age-matched normal controls were included. ASD children were evaluated by a standard sleep questionnaire that consisted of 45 items in a Likert-type scale covering several areas of sleep disorders and by overnight polysomnography in the sleep laboratory after one adaptation night. RESULTS: The questionnaire results showed that parents of ASD children reported a high prevalence of disorders of initiating and maintaining sleep, enuresis, repetitive behavior when falling asleep, and daytime sleepiness. Polysomnographically, ASD children showed reduced time in bed, total sleep time, sleep period time and rapid eye movement (REM) latency. ASD subjects had a CAP rate during slow-wave sleep (SWS) lower than normal controls, together with a lower percentage of A1 subtypes. CONCLUSIONS: ASD children questionnaires showed a higher percentage of disorders of initiating and maintaining sleep than normal controls; this was not completely confirmed by sleep staging. CAP measures showed subtle alterations of NREM sleep which could be detected with an appropriate methodology of analysis. The reduction of A1 subtypes during SWS might play a role in the impairment of cognitive functioning in these subjects.


Subject(s)
Activities of Daily Living , Autistic Disorder/epidemiology , Sleep Disorders, Circadian Rhythm/diagnosis , Sleep Disorders, Circadian Rhythm/epidemiology , Adolescent , Child , Child, Preschool , Comorbidity , Female , Humans , Logistic Models , Male , Parent-Child Relations , Polysomnography , Sleep Stages/physiology , Sleep, REM/physiology , Surveys and Questionnaires
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