Study Of Patient Files Research Articles

Congenital heart disease does not entail an increased risk for severe COVID-19.

To analyse the risk of developing serious disease or death due to COVID-19 among patients who underwent heart surgery during childhood. A retrospective combined register and patient file study. We identified all individuals who had undergone surgery for congenital heart disease in childhood between 1994 and 2019 in our Local Surgical Register that covers half of the Swedish population. This effort was cross-tabulated with the diagnosis of COVID-19 entered in the National Register of Diagnoses in Sweden from 1 March 2020 to 1 March 2021. Severe disease was defined as treatment at an intensive care unit (ICU). We identified 3950 individuals, and the median age at follow-up was 16 years (1-44). A total of 32 patients were diagnosed with COVID-19. Five of them were hospitalised for more than 2 days (5-32 days). Two adults required treatment at an ICU; both had additional comorbidity and one died. The corresponding number of ICU stays for this age range in Sweden was 2020 approximately 0.13/1000 person-years, reported from The Swedish Intensive Care Registry. There was no increased rate of severe COVID-19 among individuals who had undergone surgery for congenital heart disease in childhood. Additional comorbidity is related to outcome.

Givosiran in acute intermittent porphyria: A personalized medicine approach.

In patients with acute intermittent porphyria (AIP), induction of delta aminolevulinic acid synthase 1 (ALAS1) leads to haem precursor accumulation that may cause recurring acute attacks. In a recent phase III trial, givosiran significantly reduced the attack rate in severe AIP patients. Frequent adverse events were injection-site reaction, fatigue, nausea, chronic kidney disease and increased alanine aminotransferase. To describe the efficacy and safety of givosiran based on a personalized medical approach. We conducted a retrospective patient file study in 25 severe AIP patients treated with givosiran in France. We collected data on clinical and biochemical efficacy along with reports of adverse events. Givosiran drastically reduced the attack rate in our cohort, as 96% were attack-free at the time of the study. The sustained efficacy of givosiran in most patients allowed us to personalize dosing frequency. In 42%, givosiran was only given when haem precursor levels were increasing. Our data suggest that givosiran is most effective when given early in the disease course. We confirmed a high prevalence of adverse events. One patient discontinued treatment due to acute pancreatitis. All patients had hyperhomocysteinemia, and all patients with initial homocysteine levels available showed an increase under treatment. In this context, one patient was diagnosed with pulmonary embolism. The sustained effect of givosiran allowed a decrease in dosing frequency without compromising treatment efficacy. The high prevalence of adverse events emphasizes the importance of restricting the treatment to severe AIP and administering the minimum effective dose for each patient.

A Portrait of Menière's Disease Using Contemporary Hearing and Balance Tests.

Menière's disease (MD) is characterized by recurrent vertigo and fluctuating aural symptoms. Diagnosis is straightforward in typical presentations, but a proportion of patients present with atypical symptoms. Our aim is to profile the array of symptoms patients may initially present with and to analyze the vestibular and audiological test results of patients with a diagnosis of MD. A retrospective study of patient files. A tertiary, neuro-otology clinic Royal Prince Alfred Hospital, Sydney, Australia. We identified 375 patients. Their history, examination, vestibular-evoked myogenic potentials (VEMP), video head-impulse test, canal-paresis on caloric testing, subjective visual horizontal (SVH), electrocochleography, ictal nystagmus, and audiometry were assessed. Atypical presenting symptoms were disequilibrium (n = 49), imbalance (n = 13), drop-attacks (n = 12), rocking vertigo (n = 2), and unexplained vomiting (n = 3), nonspontaneous vestibular symptoms in 21.6%, fluctuation of aural symptoms only (46%), and headaches (31.2%). Low velocity, interictal spontaneous-nystagmus in 13.3% and persistent positional-nystagmus in 12.5%. Nystagmus recorded ictally in 90 patients was mostly horizontal (93%) and of high velocity (48 ± 34°/s). Testing yielded abnormal caloric responses in 69.6% and abnormal video head impulse test 12.7%. Air-conducted cervical VEMPs were abnormal in 32.2% (mean asymmetry ratio [AR] 30.2 ± 46.5%) and bone-conducted ocular VEMPs abnormal in 8.8% (AR 11.2 ± 26.8%). Abnormal interictal SVH was in 30.6%, (ipsiversive n = 46 and contraversive n = 19). Mean pure-tone averages 50 dB ± 23.5 and 20 dB ± 13 for affected and unaffected ears. Menière's disease has a distinctive history, but atypical presentations with normal vestibular function and hearing are a diagnostic challenge delaying treatment initiation.

Cerebrotendinous xanthomatosis without neurological involvement.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. We performed a retrospective patient file study in 79 genetically confirmed Dutch patients with CTX (55 patients aged≥21years) to study the clinical heterogeneity of CTX. We studied the frequency of adult patients with CTX without neurological involvement at diagnosis, in our Dutch cohort, and included a family from South Africa and patients from Italy, USA, Chile and Asia from the literature. In total, we describe 19 adult patients with CTX from 16 independent families, without neurological symptoms at diagnosis. A relatively small percentage (21%, n=4) had a history of cataract. The majority, 84% (n=16), presented with tendon xanthomas as the sole or predominant feature. The majority of patients showed increased plasma cholesterol levels. No correlation was found between this 'milder phenotype', the cholestanol levels and the CYP27A1 genotype. In addition, we describe three novel mutations in the CYP27A1 gene. This study shows the clinical heterogeneity of CTX, highlighting the existence of a 'milder phenotype', that is without neurological involvement at diagnosis. Adult patients with CTX may present with tendon xanthomas as the sole or predominant feature, mimicking familial hypercholesterolemia. It is important to realize that the absence of neurological symptoms does not rule out the development of future neurological symptoms. As CTX is a treatable disorder, early diagnosis and initiation of treatment when additional clinical signs occur is therefore essential.

Factors associated with refusal of hospital treatment at Odi District Hospital, Gauteng Province, South Africa

Abstract Background Medical consultation entails shared doctor-patient decision making. However, in certain cases disagreement between the two parties may lead to patient refusal of hospital treatment (RHT). At Odi District Hospital, patients opted for RHT at the accident and emergency (A&E) department and in wards. The study aimed at determining factors related to the RHT. Methods This was a cross-sectional descriptive study of patient files with a record of RHT from 2017 to 2018. They were traced using the register books and 241 were obtained: A&E (160), obstetrics and gynaecology (2), internal medicine (24), orthopaedics (2), paediatrics (12) and surgery (41). Eighteen files were excluded for incomplete data, 223 remained for analysis. Results More males and the single signed RHT 139 (62.33%) and 152 (68.16%), respectively. RHT was frequent towards the end of the day (p = 0.041), at A&E (59.5%) and as a result of family related matters (31.84%). Other factors related to RHT were the first-time consultation at A&E (p < 0.0001, CI 3.238–11.051), being young (p < 0.0001, CI: 0.1071–0.2451), having co-morbidities (p = 0.0072, CI: 0.4222-0.8647) and a long stay in the wards (p=0.0003, CI 1.382–3.275). Conclusion RHT was more prevalent among males, the young, single and unemployed patients. More RHTs occurred towards the end of the day, at A&E, among those who had long hospital stay, those with family related matters and those with co-morbidities. These identified factors should guide prioritisation in intervention strategies aimed at curbing RHT at Odi District Hospital

Self-concept of children and adolescents with cochlear implants

ObjectivesCommunicative disorders can complicate social interactions and may be detrimental for one's self-concept. This study aims to assess the self-concept of children with Cochlear Implants (CI). Results of educational peer groups (special needs or typical) were compared. Correlations amongst speech perception, language comprehension, self-concept and other study variables are determined. MethodsThis retrospectively patient file study contained 53 CI participants with a mean age of 14.2 (SD = 2.8). Self-concept was measured with the Dutch language version of the Self-Perception Profile for Children and Adolescents. Proportions of low, normal and high competence scores were compared to a normative sample. Outcomes were analyzed for the total CI group and for the two educational peer groups. Results: In the Scholastic Competence, Athletic Competence, Physical Appearance and Behavioral Conduct domains larger proportions of high perceived competence levels were found in the CI Total group compared to the hearing normative sample. Children with CIs in the Mainstream educational subgroup were found to have larger proportions of high levels on these domains. Remarkably, children with CI in the Special hearing impaired educational subgroup reported comparable self-concept scores as their hearing peers. Speech perception and language comprehension were positively correlated to Scholastic Competence. ConclusionThis study has shown that self-concept levels of profoundly hearing impaired children with CI are comparable to those of hearing peers. They are generally satisfied with their functioning in various domains. Better speech perception and language comprehension levels are related to higher outcomes in the Scholastic Competence domain.

Residency program under scrutiny (part 2)-How do residents prepare for emergency operations?

Postgraduate medical education in trauma and orthopedic surgery residents largely relates to learning and teaching surgery. During this crucial stage of surgical development some of the didactic challenges are caused by heterogeneous and contradictory expectations of trainees and trainers alike. So how do residents prepare for emergency surgery? To date there is neither an expert consensus nor scientific investigations in the clinical context on this topic. Between February and April 2015 questionnaires were issued to all physicians active in the field of trauma and orthopedic surgery within the Trauma Network East Bavaria (27clinics, 255 physicians). The participants were asked to rate the importance of certain elements functioning in the preparation of two emergency operations using a Likert scale. The intensity with which residents generally realize these elements of preparation was also documented. The aim was to objectify if and to what extent the presumed normal practices diverge from clinical reality. Atotal of 150 questionnaires were analyzed (return rate 59%). Discussion with the consultant (85.3%, n = 128), examination of the patient (80.0%, n = 120), surgical approach (76.0%, n = 114) and study of patient files (68.0%, n = 102) were considered to be the most important elements; however, many of the participants admitted that these elements of preparation are not sufficiently performed. The personal preparation of residents for an emergency operation should be classified as extremely important; however, the requirements and reality do not seem to hold true in the clinical environment. This seems to be most likely due to structural and organizational issues.

Chemotherapy and Tyrosine Kinase Inhibitors in the last month of life in patients with metastatic lung cancer: A patient file study in the Netherlands.

ObjectiveChemotherapy in the last month of life for patients with metastatic lung cancer is often considered as aggressive end‐of‐life care. Targeted therapy with Tyrosine Kinase Inhibitors (TKIs) is a relatively new treatment of which not much is known yet about use in the last month of life. We examined what percentage of patients received chemotherapy or TKIs in the last month of life in the Netherlands.MethodsPatient files were drawn from 10 hospitals across the Netherlands. Patients had to meet the following eligibility criteria: metastatic lung cancer; died between June 1, 2013 and July 31, 2015.ResultsFrom the included 1,322 patients, 39% received no treatment for metastatic lung cancer, 52% received chemotherapy and 9% received TKIs. A total of 232 patients (18%) received treatment in the last month of life (11% chemotherapy, 7% TKIs). From the patients who received chemotherapy, 145 (21%) received this in the last month of life and 79 (11%) started this treatment in the last month of life. TKIs were given and started more often in the last month of life: from the patients who received TKIs, 87 (72%) received this treatment in the last month of life and 15 (12%) started this treatment in the last month of life.ConclusionA substantial percentage of patient received and even started chemotherapy or TKIs in the last month of life. For chemotherapy, this might be seen as aggressive care. TKIs are said to have less side effects, do not lead to many hospital visits and due to the rapid response, are considered good palliation. However, it is not known, yet possible that, when patients still receiving treatment until shortly before death, this might influence preparing for death in a negative way.

Residency program under scrutiny-how do residents prepare for elective operations?

A wide variety of technical, emotional and organizational aspects of the residency program are aligned with "learning and teaching operations". When aresident is assigned as an operator to the operation program, many chances are provided for teaching and learning with preparation, intraoperative and postoperative care. But the moment when aresident starts preparing for an operation, heterogeneous and partly old-fashioned attitudes as well as contradictory practices must be faced in the clinical context. In the daily practice there is no consensus about a structured preparation for an operation. There have been no scientific investigations on this topic so far. From February to April 2015 questionnaires were sent to all trauma and orthopedic surgeons in the trauma network of East Bavaria (27clinics, 255 physicians). Using Likert scales, the participants could rate the importance of certain elements of preparation for two elective operations and the intensity of how the residents succeeded in these. The aim was to objectify if and to what extent the aspirations diverge from clinical reality. A total of 150 forms could be analyzed (response rate 59%). The surgical approach, patient examinations, study of patient files, discussion with the consultant and the operation technique were considered to be the most important elements; however, approximately half of the participants stated that they did not sufficiently accomplish these elements. Gender-specific differences or differences between the age groups could only be sporadically detected. Amismatch could be recognized between aspiration and reality concerning the personal preparations of residents for operations. Hospital-specific concepts and a standardized, preoperative dialogue between residents and consultants could be an important element in asuccessful preparation for interventions.

Pharmacotherapy in older adults with personality disorders: a new area of attention

Pharmacotherapy in older adults with personality disorders (PD) is a new and important area of attention. Nowadays, symptom based pharmacotherapy in older adults with PD is based on multidisciplinary guidelines, which are constructed on research performed in patients up to 50 years of age. There is no specific guideline for older adults with PD. Providing a description of patient characteristics: number of comorbid psychiatric disorders, use of medication, including polypharmacy, in older adults (≥ 65 years) with personality disorders. A retrospective cross-sectional patient file study (n = 50) in a clinical center of excellence for older adults with personality disorders (outpatient setting). . From the file study, it appears that 1) the unspecified/other specified personality disorder and the borderline personality disorder (BPD) occur most frequently, 2) there is a trend (no significant difference) that older adults with BPS use most medication (somatic medication and psychotropics) and 3) there is a trend (no significant difference) that polypharmacy is the most prevalent amongst older adults with BPD. The use of medication in certain subgroups of older adults with PD tends to be high. Further research is necessary to optimize pharmacotherapy in older adults with PD.

Nutritional Status in Childhood as a Prognostic Factor in Patients with Cystic Fibrosis.

There is a strong association between cystic fibrosis and malnutrition, mainly because of the higher energy needs combined with lower intake. There is also a well-established correlation between good nutritional status and better lung function. To date, however, there are no studies examining nutritional status in childhood and adult lung function. To respond to this need, this innovative study explored the long-term correlations between nutritional status in childhood and lung function in adulthood for the same patient population. A retrospective patient file study was conducted to identify putative correlations between nutritional status in childhood and lung function in adulthood. The medical archives at Sheba Medical Center were examined for a period of 31years between 1986 and 2017 for age, gender, mutations, pancreatic sufficiency or insufficiency (PI/PS), sputum cultures, cystic fibrosis related diabetes, body mass index (BMI) at the age of 10, and FEV1 at 20 and 30 in patients who underwent or did not undergo lung transplantation. The database was composed of the records of sixty-five patients, thirteen of whom underwent lung transplantation. The correlations (R²) between BMI at age of 10years and FEV1 at the age of 20 and 30years were 0.35 and 0.28, respectively, p < 0.001. A BMI of lower than - 0.75at the age of 10 emerged as a risk factor for lung transplantation (OR 3.42 p = 0.023) and had a negative predictive value of 90%. Kaplan-Meier survival curve showed significant lower lung transplantation rate in the group of BMI z score higher than - 0.75at the age of 10years. Logistic regression found nutritional at the age of 10years as a dominant risk factor for lung transplantation. This study reports a clear, significant and important correlation for the first time between nutritional status in childhood and lung function for the same patients at adulthood. Hence, nutritional status sets a clear trajectory and should be treated aggressively. The findings emphasize the importance of new-born screening and early implementation of nutritional guidelines for cystic fibrosis patients.

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD. In addition, we compared plasma cholestanol levels in CTX patients with and without a diagnosis of ASD and tried to establish a relation between CYP27A1 genotype and ASD. In our CTX cohort, 10 patients (13%; nine pediatric and one adult) with ASD were identified. At the time of diagnosis of ASD, most patients only exhibited symptoms of diarrhea and/or intellectual disability without signs of cataract or neurological symptoms. No correlation was found between the presence of ASD and the level of cholestanol or CYP27A1 genotype. The behavioral problems stabilized or improved after treatment initiation with chenodeoxycholic acid (CDCA) in all pediatric patients. We conclude that ASD is an early and probably underestimated frequent feature in CTX. Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. Our results add CTX to the list of treatable IEMs associated with ASD.

Efficacy of daily 800IU vitamin D supplementation in reaching vitamin D sufficiency in nursing home residents: cross-sectional patient file study.

BackgroundThe Dutch Health Council advises a standard daily vitamin D supplementation of 800 IU (20 mcg) for persons aged ≥ 70 years, with a target 25(OH)D serum concentration of ≥ 50 nmol/l. This recommendation is in line with advice from the Institute of Medicine (IOM) (2011) and the Expert Working Group on vitamin D (2012). A target 25(OH)D serum concentration of ≥ 75 nmol/l is also recommended in the literature. It is unknown whether this advice, initially designed for healthy adults/elderly, will lead to vitamin D sufficiency in the large majority of nursing home residents, taking into account the frailty of this population.MethodsCross-sectional patient file study. Participants were 71 psychogeriatric nursing home residents (25 males, 46 females) with a mean age of 83 (SD 7) years using cholecalciferol capsules (5600 IU) once a week, or cholecalciferol drops (50,000 IU/ml) 3 drops a week (7500 IU), for at least 3 months. Main outcome measure was serum 25(OH)D level after supplementation.ResultsOf all participants, 19 used cholecaliferol drops and 52 used cholecaliferol capsules. In total, mean serum 25(OH)D was 77 (SD 30) nmol/L and 55 residents (78%) were vitamin D sufficient. Among capsule users, mean serum 25(OH)D was 90 (SD 22) nmol/L and 49 (94%) were vitamin D sufficient. Among users of drops, mean serum 25(OH)D was 41 (SD 8) nmol/L and 6 (32%) were vitamin D sufficient.ConclusionIn most of these residents, vitamin D supplementation once a week with cholecalciferol capsules containing 5600 IU (equivalent to 800 IU daily) resulted in vitamin D sufficiency (serum 25(OH)D ≥ 50 nmol/L). When choosing a vitamin D preparation for routine supplementation in nursing home residents it should be noted that major differences may exist in efficacy, even when the various preparations contain the same amount of vitamin D.

SOCIAL EXCLUSION AND SENSITIZATION OF THE DOPAMINE SYSTEM: A [123I]IBZM-SPECT STUDY IN YOUNG ADULTS WITH SERIOUS HEARING IMPAIRMENT

Communicative disorders can complicate social interactions and may be detrimental for one's self-concept. This study aims to assess the self-concept of children with Cochlear Implants (CI). Results of educational peer groups (special needs or typical) were compared. Correlations amongst speech perception, language comprehension, self-concept and other study variables are determined.This retrospectively patient file study contained 53 CI participants with a mean age of 14.2 (SD = 2.8). Self-concept was measured with the Dutch language version of the Self-Perception Profile for Children and Adolescents. Proportions of low, normal and high competence scores were compared to a normative sample. Outcomes were analyzed for the total CI group and for the two educational peer groups. Results: In the Scholastic Competence, Athletic Competence, Physical Appearance and Behavioral Conduct domains larger proportions of high perceived competence levels were found in the CI Total group compared to the hearing normative sample. Children with CIs in the Mainstream educational subgroup were found to have larger proportions of high levels on these domains. Remarkably, children with CI in the Special hearing impaired educational subgroup reported comparable self-concept scores as their hearing peers. Speech perception and language comprehension were positively correlated to Scholastic Competence.This study has shown that self-concept levels of profoundly hearing impaired children with CI are comparable to those of hearing peers. They are generally satisfied with their functioning in various domains. Better speech perception and language comprehension levels are related to higher outcomes in the Scholastic Competence domain.

Manifestations cutanées observées au cours d’un traitement par anti-TNF alpha : 11 observations

TNFalpha blockers have recently extended the therapeutic arsenal available in dermatology. However, dermatologists must be informed of their potential adverse dermatological effects. While the chief adverse effect of TNFalpha blockers is risk of infection, cutaneous adverse effects have not yet been clearly elucidated and publications on this topic are few and far between. The aim of our study is to report various dermatological problems noted during treatment with TNFalpha blockers. This was a retrospective study of patient files. The study population comprised patients receiving TNFalpha blockers and presenting cutaneous reaction, and seen in the dermatology department between August 2001 and December 2004. Eleven patients were included. The following cutaneous reactions were seen: delayed skin rash (1 case), lupus syndrome (1 case), cutaneous vasculitis (2 cases), palmoplantar pustulosis (2 cases), psoriasis vulgaris (1 case), atopic dermatitis (1 case), lichenoid rash (1 case), purpuric capillaritis (1 case) and melanoma (1 case). The cutaneous manifestations seen represented a wide range of different clinical pictures. Dermatologists must be aware of these potential adverse effects. Future improvement of knowledge of the physiopathological mechanisms as well as the institution of prospective cohort studies should provide clearer guidance on the management of such symptoms.