Psychiatric Illness in a Large Family with Familial Hyperparathyroidism

1970 ◽  
Vol 117 (541) ◽  
pp. 693-698 ◽  
Author(s):  
Thomas A. Flanagan ◽  
Donald W. Goodwin ◽  
Philip Alderson

In 1964 Cutler et al. (1) reported on a family in which 11 members apparently had primary hyperparathyroidism. Seven cases were diagnosed at surgery; four other members had elevated serum calcium and other evidence of the disease. It was noted as an incidental finding that two of the affected members also suffered from severe psychiatric illness. The present study is a six-year follow-up investigation of the family from a psychiatric viewpoint, using non-hyperparathyroidism family members as controls to explore the possible relation of hyperparathyroidism to psychiatric illness.

1998 ◽  
Vol 77 (5) ◽  
pp. 404-407 ◽  
Author(s):  
Justin A. Bergman ◽  
Ronald Pallant

Over a ten-year period 26 patients were evaluated by the authors for elevated serum calcium and parathormone levels. All patients were clinically asymptomatic and were referred for parathyroid evaluation following a diagnosis of hypercalcemia made on routine SMA-12 studies. Twenty-four patients had positive thallium/technetium subtraction studies; two were suggestive of bilateral adenomata, one of which was confirmed at surgery. In two patients both thallium/technetium and technetium sestamibi scanning studies were negative. These patients were managed medically without surgical exploration. In all operative cases the patients remained normocalcemic during a six-month follow-up period. Operative times in all cases were less than one hour.


2009 ◽  
Vol 75 (7) ◽  
pp. 579-583 ◽  
Author(s):  
Jyotirmay Sharma ◽  
Collin J. Weber

Isolated familial hyperparathyroidism (FHPT) not associated with multiple endocrine neoplasia is a rare and aggressive form of primary hyperparathyroidism. The traditional management of FHPT is a bilateral neck exploration with an increased rate of multigland hyperplasia, supernumerary glands, and recurrence. A prospective database was queried, which included 1383 consecutive parathyroidectomies between 1992 and 2008, and 28 patients with FHPT were identified. Patient demographics, pathology, intraoperative parathyroid hormone (IOPTH) kinetics, recurrence patterns, and accuracy of localization studies were analyzed. Twenty-one patients underwent bilateral neck explorations as an initial surgery, and seven patients had nine unilateral neck explorations for recurrent hyperparathyroidism. Overall cure rate was 89.2 per cent with a mean follow-up of 2.9 years (range: 6 months to 9.2 years); 64.3 per cent of patients had multigland disease. IOPTH helped identify supernumerary glands in three (12.5%) patients and accurately lateralized recurrent disease in eight of nine surgeries (88.8%). Tc-99m-Sestamibi failed to identify multigland disease in 11 patients (52.3%). FHPT has a greater prevalence of multigland disease, decreased utility of sestamibi scanning, and a higher recurrence rate than sporadic primary hyperparathyroidism. In FHPT, IOPTH is a useful adjunct in identifying additional tumors and in select cases may play a role in tumor localization.


2004 ◽  
pp. 19-25 ◽  
Author(s):  
G Hedback ◽  
A Oden

OBJECTIVE: Nineteen patients with persistent primary hyperparathyroidism were investigated to evaluate their clinical and laboratory status a long time after treatment was ended. The risk of persistent disease and need for extensive surgery for cure, i.e. more than two neck operations, or mediastinal exploration, was also evaluated. DESIGN: The medical records of 896 consecutive patients operated on for primary hyperparathyroidism were scrutinised at follow-up, a mean of 10.3 Years after surgery. Data on state of health, medication, bone fractures and other diagnoses were collected by use of a questionnaire. There were 600 patients still alive, among whom 13 had persistent disease and they were compared with 509 patients who were cured and without any suspicion of recurrent disease, according to laboratory examination. RESULTS: Serum calcium and creatinine values had with few exceptions remained stable over the Years. In five patients, serum calcium levels were within the normal range at follow-up. Still, all 19 patients were considered hyperparathyroid. They had substantial cardiovascular morbidity, and their state of health was not as good as that of the patients who were surgically cured. After one operation, 5.5% (95% confidence interval (CI) 4.0-7.2%) had persistent disease, and 2.1% after reoperation. Extensive surgery for cure was performed in 2% of the patients (95% CI 1.1-3.2%). CONCLUSIONS: We found that the state of health was significantly better for patients with cured primary hyperparathyroidism than for patients with persistent disease, but serious deterioration of laboratory values was uncommon. The result of the present study supports surgical treatment.


PEDIATRICS ◽  
1964 ◽  
Vol 33 (4) ◽  
pp. 512-525
Author(s):  
Richard J. Allen ◽  
John C. Heffelfinger ◽  
Ronald E. Masotti ◽  
Makepeace U Tsau

One of the techniques that may be employed to expedite the diagnosis of phenylketonuria in the newborn infant is the phenylalanine load test. However, this is probably an impractical method for a routine examination but in the suspected sibling may permit rapid differentiation of an affected infant from one entirely normal. Also, carriers may simulate phenylketonuric infants so that the diagnosis must still rest on the appearance of abnormal metabolites in the urine. Of 15 suspected infants, three proved to have typical phenylketonuria very early while four others demonstrated elevated phenylalanine levels in load tests in the newborn period and on serial follow-up, which might otherwise suggest the disease. Studies of these infants showed that they did not have phenylketonuria and that they were in all probability carriers. The carrier state which has been extensively studied in adults may therefore occur in the neonate and may be confused in the clinical diagnosis with the phenylketonuric infant. The proven phenylketonuric infants developed abnormal metabolites in the urine within the first few days of life so that the diagnosis could be corroborated by the simple ferric chloride test in addition to chromatographic methods which detected o-HPA and phenylalanine. Also ten infants with phenylketonuria diagnosed at less than two months of age are included in this report. They consist of four infants who were "first cases" in the family and six infants diagnosed as the result of a known older sibling. Three infants were recognized by our study of 15 suspected newborns horn into 13 different families where phenylketonuria was known to be present. Positive urine ferric chloride tests appeared as early as two days of age and indicated that ferric chloride testing is useful in the newborn. If, however, the diagnosis is established by elevated serum phenylalanine levels the child should probably not be treated for phenylketonuria until other typical metabolites are identified.


Dementia ◽  
2016 ◽  
Vol 18 (1) ◽  
pp. 55-79 ◽  
Author(s):  
Catherine Le Galès ◽  
Martine Bungener

Using the capability approach initially developed by A Sen as a theoretical framework, this paper analyses both what people with dementia and their families do in response to difficulties in their daily life brought about by the disease, and the reasons they give for acting as they do. Individual and collective interviews and ethnographic observations with 15 persons with dementia and one or more of their family members were conducted. Follow-up interviews were possible for nine families. Results highlight a great diversity in ways of doing things and in accompaniment by family members. Daily adjustments are often hidden or minimized, at least at the onset of the dementia. Later, they become more frequent, repetitive and indispensable but remain influenced by the social and gender roles that existed prior to the illness. The inventiveness of families, in a context marked by various kinds of constraints, is primarily motivated by their desire to maintain the apparently intact abilities of the person with dementia but especially to preserve forms of liberty and what counted for the person, what that person valued before the disease. There are some ways of living with dementia, even when accompanied, which may long remain preferable to others, which better answer to the past and present aspirations of persons with dementia and the purposes of the accompanying persons. It is thus essential that health professionals, as well as society in general, recognize and address this issue.


2020 ◽  
Vol 46 (Supplement_1) ◽  
pp. S125-S126
Author(s):  
Norma Verdolini ◽  
Silvia Amoretti ◽  
Gisela Mezquida ◽  
Bibiana Cabrera ◽  
Manuel J Cuesta ◽  
...  

Abstract Background Family environment plays a key role in the development of psychotic symptoms (Pitschel-Walz et al., 2001; Tienari et al., 2004) and negative family environmental factors are linked to poor prognosis in psychosis (Geller et al., 2000). By contrast, a positive family environment is associated with greater improvements in negative and disorganized symptoms among individuals at imminent risk of becoming psychotic (O’Brien et al., 2006). Nonetheless, little is known about the implication of family environment on longitudinal functioning in patients that presented a first psychotic episode. Methods This study is part of the “Phenotype-genotype and environmental interaction. Application of a predictive model in first psychotic episodes” (PEPS) study, a multicentric, longitudinal, naturalistic follow-up study (Bernardo et al., 2013). The Functional Assessment Short Test (FAST) was used to assess functional outcome. The Family Environment Scale (FES) evaluated family emotional climate in different categories: COHESION (C) for mutual reliance; EXPRESSIVITY (EX), the extent to which family members express their feelings directly; CONFLICTS (CON) for open expression of anger, aggressiveness and conflict; INDEPENDENCE (IND), the extent to which family members are independent in their decisions; ACHIEVEMENT ORIENTATION (AO) for an achievement-orientated environment; INTELLECTUAL–CULTURAL ORIENTATION (ICO) for political, intellectual, cultural interests; ACTIVE–RECREATIONAL ORIENTATION (ARO) for participation in social activities; MORAL–RELIGIOUS EMPHASIS (MRE) for the importance given to ethical and religious practices and values; ORGANIZATION (ORG) for the organization in activities and responsibilities; and CONTROL (CTL), the extent to which the family considers rules and established procedures. Patients with a first psychotic episode (FEPs) and healthy controls (HCs) have been evaluated baseline and after two years of follow-up. Diagnoses at 2 years have been established according to the Structured Clinical Interview for DSM-IV. Linear regression models have been conducted in order to assess the effect that different family environments exert on functioning at baseline but also at 2 years of follow-up, when the group of FEPs has been divided in patients diagnosed with psychotic disorders (PSYC) versus bipolar disorder (BD). All data were analyzed with the Statistic Package for Social Sciences (SPSS v.23 for Windows). All the analyses were two-tailed with alpha set at p < 0.05. Results At baseline, the total sample included 335 FEPs (mean FAST=27.8±16.1) and 253 HCs (mean FAST 3.5±8.1). At baseline the linear model was not significant neither for FEPs nor for HCs and no family environment was associated with functioning. At 2 years (mean FAST BD=13.8±15.1, mean FAST PSYC =20.98±15.4), in the BD group (F(10,14)=2.6, p=.05) worse functioning was associated with CON (β=.741, p=.004) whilst in the PSYC group (F(10,108)=3.509, p=<.001) it was negatively associated with ARO (β=- .305, p=.006) and AO (β=- .204, p=.039) and positively associated with MRE (β=.268, p=.003). Discussion At baseline, no specific family environment was associated with functioning. At 2 years, in BD worse functioning was associated with higher rates of open expression of conflict in the family whilst in PSYC it was associated with lower rates of participation in social activities and achievement-orientated family environment as well as with higher rates of religious practices and values. Family environment exerts an important role in the functioning of FEPs mainly in the long-term, with important implications for early interventions for both patients and caregivers.


2008 ◽  
Vol 3 (1) ◽  
pp. 7-10
Author(s):  
G C Crawford ◽  
A M Lucassen

There has been much discussion about what, if any, legal and moral duties professionals have to disclose relevant genetic information to the family members of someone with an identified disease predisposing mutation. Here, we present a case report where dissemination of such a genetic test result did not take place within a family. In contrast to previous literature, there appeared to be no deliberate withholding of information, instead distant relatives were unable to communicate relevant information appropriately. When communication was facilitated through the follow-up of a chance remark, the patient was able to avoid planned major surgery, with its attendant morbidity, and her high anxiety levels were much reduced. We believe this case highlights the need for an ongoing debate on how genetic services can best support patients and their families with disclosing relevant genetic information to other family members.


2015 ◽  
Vol 24 (1) ◽  
pp. 87-95 ◽  
Author(s):  
Daniele Castro Barbosa ◽  
Francisca Georgina Macedo de Sousa ◽  
Joséte Luzia Leite

The study aimed to reveal intervening conditions towards the care of children with chronic condition. The Complex Thought was used as theoretical framework and the Grounded Theory as methodological. Data were collected from January to August 2012, through semi-structured interviews in two follow-up services for children with chronic conditions and in the homes of participants. Participated 16 relatives of children with chronic conditions, divided into three sample groups. The category "Scoring the intervening conditions towards care of the child with chronic condition" reveals that multiple events experienced by the family in the care of children with chronic conditions are determined by the relationships and interactions of family members and influence the forms of organization for the care of child. Highlights the importance of the nurse to know and understand the multiple family experiences in order to encompass child and their family members as care units.


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