Lifelong Follow-up Research Articles

Delphi method to determine a list of questionnaire-assessed parameters in the follow-up of patients with inflammatory bowel disease

BACKGROUND: Patients with inflammatory bowel disease often require lifelong follow-up by a clinician. Telemedicine monitoring is a promising area of such healthcare services, often based on the evaluation of patients’ remote questionnaire results by a medical practitioner. AIM: To define, using the Delphi method, a list of questionnaire-assessed parameters for monitoring and treating patients with IBD. MATERIALS AND METHODS: The study was conducted in three stages. An electronic survey form was created to collect information, ensuring that the respondent’s experience was included when completing the survey. In the first stage, respondents answered an open-ended question about what parameters assessed by questionnaires should be monitored in patients with IBD. In the second stage, participants answered the same question but selected any number of items from a list. In the third stage, the responses were analyzed. The primary endpoint was a consensus on each parameter, defined as 75% respondent agreement. RESULTS: The study had 15 participants, 13.3% of whom were male. Of all respondents, 46% worked in an outpatient setting, whereas 54% worked in an inpatient setting. Their ages ranged from 25 to 53 years, with 53% of the participants having 1–4 years of experience and 47% having 17–29 years of experience. None of the parameters reached a 75% agreement level based on the results of the first stage. In the second stage, respondents reached a consensus on 72% of the parameters. No relationship was found between respondents’ age, sex, years of experience, or job settings and responses in the first and second stages. CONCLUSIONS: The final list of parameters recommended for evaluation during the monitoring and treatment of patients with IBD included abdominal pain, frequency of defecation and stool quality, presence of pathological stool impurities, body temperature, joint/muscle pain, sleep quality, anxiety, depression, work capacity for employed/ability to attend lessons for students, energy and quantity of vigor, fixation on the disease, patients’ general evaluation of their quality of life, and treatment adherence.

Is there a role for cardiovascular magnetic resonance imaging in the assessment of biological aortic valves?

Patients with biological aortic valves (following either surgical aortic valve replacement [SAVR] or trans catheter aortic valve implantation [TAVI]) require lifelong follow-up with an imaging modality to assess prosthetic valve function and dysfunction. Echocardiography is currently the first-line imaging modality to assess biological aortic valves. In this review, we discuss the potential role of cardiac magnetic resonance imaging (CMR) as an additional imaging modality in situations of inconclusive or equivocal echocardiography. Planimetry of the prosthetic orifice can theoretically be measured, as well as the effective orifice area, with potential limitations, such as CMR valve-related artefacts and calcifications in degenerated prostheses. The true benefit of CMR is its ability to accurately quantify aortic regurgitation (paravalvular and intra-valvular) with a direct and reproducible method independent of regurgitant jet morphology to accurately assess reverse remodelling and non-invasively detect focal and interstitial diffuse myocardial fibrosis. Following SAVR or TAVI for aortic stenosis, interstitial diffuse fibrosis can regress, accompanied by structural and functional improvement that CMR can accurately assess.

Resection and Re-resection for a Clear Cell Renal Carcinoma with Sarcomatoid Features in a Patient with Birt-Hogg-Dubé Syndrome

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic autosomal dominant disorder which is, among other disease manifestations, associated with an increased life-time risk of developing renal cell carcinoma (RCC). Sarcomatoid RCC (sRCC) is a subtype of RCC associated with poor prognosis, high recurrence rates, and a significant resistance to a variety of systemic treatments. Case Report: Here, it is reported that the first case of a sRCC with local recurrence in a 62-year-old female patient with BHDS. This patient was successfully treated with a partial robotic nephrectomy and a re-resection of the tumor recurrence resulting in good short-term oncological outcomes. Conclusions: Robotic partial nephrectomy for sRCC, and robotic re-resection for locally recurrent sRCC in BHDS patients is a feasible treatment strategy associated with good short-term oncological outcomes. Due to the high risk of local and distant recurrences in sRCC cases, a lifelong follow-up with regular imaging is recommended.

Distribution of osteoprotegerin in unruptured intracranial aneurysms in humans: association with aneurysm wall protective remodeling.

Aneurysm wall inflammation is associated with lesion instability in unruptured intracranial aneurysms (UIAs). However, most UIAs remain unruptured during lifelong follow-ups because of simultaneous protective remodeling against the inflammatory response. The protective effects of osteoprotegerin (OPG) in intracranial and abdominal aortic aneurysms have been suggested using rodent models; however, the role of this protein in UIAs in humans remains unclear. Herein, the authors examined the relationship between OPG expression and aneurysm wall integrity in intraoperatively resected UIAs by using immunohistochemical and immunofluorescence staining. Sixteen UIA wall tissue specimens resected between 2017 and 2022 were analyzed. Aneurysm growth was defined as an enlargement > 1 mm or an obvious morphological change over the course of more than 6 months. Three high-power fields were randomly selected from areas expressing high and low levels of OPG within the same aneurysm. To clarify the role of OPG in the human aneurysm wall, the authors compared averaged values for the following pathological features between the 2 OPG expression groups: aneurysm wall thickness, collagen, macrophages, smooth muscle cells, and transforming growth factor beta 1 (TGF-β1). Immunohistochemical staining within the entire tissue area was also analyzed to determine the relationships between OPG expression and different aneurysm growth patterns. Pathological findings were compared between high and low OPG expression levels using the Wilcoxon signed-rank test. The heterogeneous expression of OPG was detected in the walls of UIAs. Lesions expressing high OPG levels had thicker aneurysm walls (327 vs 180 μm, p = 0.002) and higher expression levels of TGF-β1 (8.5% vs 5.4%, p = 0.002) than those expressing low OPG levels. The expression of TGF-β1 was colocalized with that of OPG mainly in the tunica media. Furthermore, lesions expressing high OPG levels had larger α-SMA+ areas (25% vs 13%, p = 0.002). Aneurysm growth was observed in 6 of 9 UIAs with available data: whole sac expansion in 4 and secondary aneurysm formation in 2. Among the 6 UIAs with aneurysm growth, OPG expression was relatively higher in the UIAs with an internal elastic lamina than in those without (17% vs 6.9%). Aneurysm wall integrity was associated with OPG expression in the aneurysm wall. Collectively, the study results indicated that OPG is associated with protective remodeling, which may contribute to the retention of aneurysm wall structures.

Very long-term follow-up of Indiana Pouchesproves durability.

An Indiana Pouch (IP)is a heterotopic, continent, urinary diversion from an ileocolonic segment. Numerous studies have investigated its long-term outcomes, albeit none extending beyond a 5-year follow-up period. IPs can be used as urinary diversion for benign indications and as such are constructed in typically young patients. As a consequence of their extended lifespan, there is a need for very long-term (>5 years) IP outcome data and comprehensive complication analysis. In this retrospective cohort study, the data of all patients attending our academic functional urology tertiary referral center for surveillance between 2015 and 2022 after an earlier IP procedure without uro-oncological indication were analyzed. The primary objective was to identify the prevalence of complications associated with IP, including stomal stenosis, ureter-pouch stenosis, pouch calculi, stomal leakage, pouch perforation, and parastomal herniation, and to determine the time span between creation of the IP and occurrence of complications. A cohort of 33 patients (23 female) was analyzed. Median age at IP creation was 38 (range 5-62) years. Median follow-up was 258 (range 24-452) months. During follow-up, 22 (67%) patients underwent at least one surgical revision. In total, 45 revision procedures were performed. The estimated mean revision-free survival was 198 (95%-CI 144-242) months. Two-thirds of our IP patients required surgical revision during very long-term follow-up. However, the mean revision-free survival was 198 months. This establishes the IP as a durable and resilient option for urinary diversion, yet underlines the need for lifelong follow-up as some of these complications and indication were subclinical. These results contribute significantly to patient counseling when discussing different options for urinary diversion, especially at a younger age.

Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.

Our study results suggest that in our cohort, the genotype is not easily associated to the phenotype in CCHS. Consistent with these findings and international literature, we recommend a thorough annual evaluation for all patients with CCHS to ensure optimal management and follow-up. • The majority of CCHS patients are dependent on ventilatory support. • Variants in the PHOX2B gene are responsible for the characteristics of CCHS. • This study provides insight into the clinical course and long-term outcomes of CCHS patients in the Netherlands. • In CCHS, the genotype is not easily associated with the phenotype, requiring a thorough life-long follow-up for all patients.

Treatment and rehabilitation for cervical cancer: the experience of patient journey management

Radical surgical intervention, chemoradiotherapy and immune therapy implicated for patients with cervical cancer (CC) can result in significant morphofunctional, psychological, sexual disorders and social maladjustment. To optimize treatment and rehabilitation for CC patients, a routing approach has been established. This approach involves the patient's journey during diagnosis and treatment with well-defined timed stages. Additionally, a rehabilitation program with lifelong follow-up has been implemented. Prior to commencing therapy, undertaking rehabilitation after oncogynecological treatment during the stage spanning from diagnosis to therapy initiation contributes to enhancing the quality of life (QoL) for CC patients.

Primary signet ring cell adenocarcinoma arising in exstrophy of the urinary bladder (epispadias-exstrophy complex).

Bladder exstrophy is a rare congenital anomaly in which the urinary bladder develops outside the body. It may be part of the bladder epispadias-exstrophy-cloacal complex, which is a serious embryological defect where a spectrum of abnormalities involving the urinary tract, genital tract, musculoskeletal system, and intestinal tract is seen. Primary signet ring cell adenocarcinoma (PSRCA) arising in exstrophy of the urinary bladder is extremely rare with only a few cases reported in the literature. A 32-year-old man with congenital, untreated bladder exstrophy presented with a large fungating mass on the lower abdominal wall. Physical examination revealed a 15 × 12 cm exophytic mass with a penile epispadias. Ultrasonography showed a replacement of the urinary bladder by a mass of size 9 × 8 × 7 cm with a defect in the abdominal wall. On Contrast-enhanced computed tomography (CECT), a mass protruding from a large, inferior abdominal wall defect of 5.3 cm was seen. Widened pubic symphysis with divarication of recti and an absent urinary bladder, consistent with bladder exstrophy, was also noted. The biopsy showed a signet ring cell adenocarcinoma. A radical cystectomy with ileal conduit and left inguinal lymph node dissection was done. Histopathology examination revealed a PSRCA with metastasis to the left inguinal lymph nodes. Immunohistochemistry (IHC) showed strong positivity with CDX2 and CK20 while CK7 was negative. PSRCA shows an aggressive behavior, as was seen in our case, which had metastatic inguinal lymph nodes at the time of presentation. Metastatic signet ring cell adenocarcinomas from other sites need to be ruled out. Bladder exstrophy can develop high-grade malignancies at any stage of life. Hence, surgical treatment early in life with lifelong follow-up is recommended.

Anomalous Left Coronary Artery from the Pulmonary Artery: How to Diagnose and Treat.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare coronary anomaly that can present in childhood or adulthood with a multitude of symptoms depending on the age of presentation. It should be suspected in infants presenting with heart failure in the setting of left ventricular systolic dysfunction and associated mitral regurgitation from papillary muscle ischemia. Adults with ALCAPA may present with cardiac ischemic symptoms. Prompt diagnosis with echocardiography and cross-sectional chest imaging is important to guide surgical intervention and improve the patients' survival and prognosis. The goal of surgery is to establish a dual-coronary system with mid-term results revealing progressive recovery of left ventricular function and improvement in mitral regurgitation. Patients with ALCAPA should maintain life-long follow-up with a cardiologist with congenital heart disease expertise for surveillance of post-operative complications.

Kawasaki disease: patients' transition journey and recommendations for adult care.

Children who develop coronary artery aneurysms after Kawasaki disease are at risk for cardiovascular morbidity, requiring health care transition and lifelong follow-up with an adult specialist. Follow-up losses after health care transition have been reported but without outcome and patient experience evaluation. The Theoretical Domains Framework underpinned our aim to explore the required self-care behaviours and experiences of young adults' post-health care transition. A qualitative description approach was used for virtual, 1:1 interviews with 11 participants, recruited after health care transition from a regional cardiac centre in Ontario. Directed content analysis was employed. Health, psychosocial, and lifestyle challenges were compounded by a sense of loss. Six themes emerged within the Theoretical Domains Framework categories. Participants offered novel health care transition programme recommendations. The realities of health care transition involve multiple, overlapping stressors for young adults with Kawasaki disease and coronary artery aneurysms. Our findings will inform a renewed health care transition programme and will include outcome evaluation.

Methodology and Results of a Joint IFSO-WGO Delphi Survey of 94 Intercontinental, Interdisciplinary Experts in Obesity Management

BackgroundObesity affects 1.5 billion people worldwide, yet few are treated effectively and considerable variability exists in its management. In 2020, a joint International Federation of Surgery for Obesity and Metabolic Diseases (IFSO) and World Gastroenterology Organization (WGO) advisory committee initiated the drafting of consensus guidelines on obesity management, to be based on detailed literature reviews and the results of an extensive multi-disciplinary survey of intercontinental experts. This paper reports on the latter. The objective of this study is to identify areas of consensus and non-consensus among intercontinental, inter-disciplinary experts in obesity management.MethodsGuided by an international consensus-survey expert, a three-round online Delphi survey was conducted in the summer of 2021 of international obesity-management experts spanning the fields of medicine, bariatric endoscopy and surgery, psychology, and nutrition. Issues like epidemiology and risk factors, patient selection for metabolic and bariatric surgery (ASMBS-Clinical-Issues-Committee, Surg Obes Relat Dis : Off J Am Soc Bariatric Surg. 8:e27-32, 1), psychological issues, patient preparation for MBS, bariatric endoscopy, and outcomes and follow-up were addressed.ResultsNinety-four experts from six continents voted on 180 statements, with consensus reached on 158, including consensus agreement with 96 and disagreement with 24 statements (38 had other response options besides agree/disagree). Among unanimous opinions were the need for all medical societies to work together to address obesity, for regular regional and national obesity surveillance, for multi-disciplinary management, to recognize the increasing impact of childhood and adolescent obesity, to accept some weight regain as normal after MBS, and for life-long follow-up of MBS patients.ConclusionsObesity is a major health issue that requires aggressive surveillance and thoughtful multidisciplinary management.

Impact of Telehealth on Failure to Attend Rates and Patient Re-Engagement in Adult Congenital Heart Disease Clinic

The coronavirus disease 2019 (COVID-19) pandemic paved the way for telehealth consultations. We aimed to determine the impact of telehealth on rates of failure to attend (FTA) in adult congenital heart disease (ACHD) clinics and whether telehealth could re-engage patients with previous FTA face-to-face appointments. This was a retrospective audit of a tertiary ACHD clinic over a 12-month pre-telehealth (26 March 2019-17 March 2020) and 12-month post-telehealth implementation period (24 March 2020-16 March 2021). Patients with one or more FTAs during the 24-month study period were included. Our ACHD clinic is run three times per month. Patients with ACHD are offered lifelong follow-up and reviewed annually on average. Re-engagement was defined as two or more consecutive face-to-face FTAs immediately before the telehealth period with subsequent attendance of their telehealth appointment. A total of 359 patients with a total of 623 FTAs were included. Complexity of congenital heart disease was moderate in 56% (202/359) and severe in 19% (69/359) of patients. Overall FTA rate was 18% (623/3,452). FTA rate was significantly lower in the post-telehealth period (15%, 257/1,664) compared with the pre-telehealth period (20%, 366/1,788) (p<0.00001). At study conclusion, 1% of patients had died (5/359). Of the 354 remaining patients, 42% (150/354) were considered lost to follow-up (two or more FTAs including telehealth), 37% (132/354) missed only one clinic appointment, and 20% (72/354) previously considered lost to follow-up had re-engaged in the telehealth period. Rates of FTA in a tertiary ACHD clinic significantly reduced after the introduction of telehealth consultation. A fifth of patients considered lost to follow-up were re-engaged with telehealth. Additional strategies to further reduce FTA should be explored.

A Comprehensive Primer on Radiation Oncology for Non-Radiation Oncologists.

Background: Multidisciplinary management is crucial in cancer diagnosis and treatment. Multidisciplinary teams include specialists in surgery, medical therapies, and radiation therapy (RT), each playing unique roles in oncology care. One significant aspect is RT, guided by radiation oncologists (ROs). This paper serves as a detailed primer for non-oncologists, medical students, or non-clinical investigators, educating them on contemporary RT practices. Methods: This report follows the process of RT planning and execution. Starting from the decision-making in multidisciplinary teams to the completion of RT and subsequent patient follow-up, it aims to offer non-oncologists an understanding of the RO's work in a comprehensive manner. Results: The first step in RT is a planning session that includes obtaining a CT scan of the area to be treated, known as the CT simulation. The patients are imaged in the exact position in which they will receive treatment. The second step, which is the primary source of uncertainty, involves the delineation of treatment targets and organs at risk (OAR). The objective is to ensure precise irradiation of the target volume while sparing the OARs as much as possible. Various radiation modalities, such as external beam therapy with electrons, photons, or particles (including protons and carbon ions), as well as brachytherapy, are utilized. Within these modalities, several techniques, such as three-dimensional conformal RT, intensity-modulated RT, volumetric modulated arc therapy, scattering beam proton therapy, and intensity-modulated proton therapy, are employed to achieve optimal treatment outcomes. The RT plan development is an iterative process involving medical physicists, dosimetrists, and ROs. The complexity and time required vary, ranging from an hour to a week. Once approved, RT begins, with image-guided RT being standard practice for patient alignment. The RO manages acute toxicities during treatment and prepares a summary upon completion. There is a considerable variance in practices, with some ROs offering lifelong follow-up and managing potential late effects of treatment. Conclusions: Comprehension of RT clinical effects by non-oncologists providers significantly elevates long-term patient care quality. Hence, educating non-oncologists enhances care for RT patients, underlining this report's importance.

FRI270 A Rare Case Of Giant Benign Pheochromocytoma

Abstract Disclosure: M.S. Hossain: None. B. Gautam: None. K. Mandal: None. H. Liao: None. D.S. Rosenthal: None. S.C. Kumar: None. Background: Pheochromocytomas are Catecholamine-secreting tumors that arise from the adrenal medulla. These tumors are rare however giant pheochromocytomas (&amp;gt;7 cm) are even rarer entities, which are thought to be more aggressive and malignant. Here we present a case of incidentally found giant but benign pheochromocytoma. Case Report: A 40-year-old female with no PMH presented to the hospital with fever &amp; cough for 1 month which was associated with weight loss (10lb). Patient was started on antibiotics and CT revealed right-sided adrenal incidentaloma while searching for sources of infection. CT &amp; MRI abdomen were done for better characterization, showed a round circumscribed right adrenal mass measuring 11.3 x 11.4 x 12.8 cm. Mass had irregular central necrosis, peripheral enhancement &amp; neovascularization. Patient denied headache, sweating &amp; palpitation; no personal or family history of pheochromocytoma. On physical examination BP: 103/70, HR: 98, Temp: 98F, BMI:25.9, unremarkable for cushingoid features, virilization &amp; hirsutism. Hormonal workup showed elevated free normetanephrine 185 (&amp;lt;148pg/ml) &amp; chromogranin A 801 (&amp;lt;311ng/ml), but normal free metanephrine &amp;lt;25 (&amp;lt;57pg/ml) &amp; total metanephrines 185 (&amp;lt;205pg/ml). 24hr Urine study: elevated total metanephrines 1661 (182-739mcg/24h) &amp; normetanephrine 1482 (88-649mcg/24h) but normal metanephrine 179(58-203mcg/24h), urine volume 2360ml/24h, urine creatinine 0.87(0.50-2.15g/24h). Patient Cortisol, ACTH, Aldosterone, Renin activity, DHEA-S, Androstenedione was normal. Patient was started on alpha-blockers. Patient underwent successful right-sided adrenalectomy &amp; nephrectomy with IVC resection. Pathology reported pheochromocytoma stage II T2Nx, Ki 67 &amp;lt;5%. No vascular and extracapsular invasion &amp; no mitosis. Post operative outpatient follow up showed elevated plasma free normetanephrine 199(&amp;lt;148pg/ml) &amp; normal free metanephrine &amp;lt;25 (&amp;lt;57pg/ml) &amp; total metanephrine 199 (&amp;lt;205pg/ml). 24hr urine study: normal metanephrine 61 (58-203mcg/24h), Normetanephrine 268 (88-649mcg/24h) &amp; total metanephrines 329 (182-739mcg/24h). Patient was advised for Ga68 DOTATE/PET scan, genetic counseling &amp; lifelong follow-up with endocrinology for surveillance. Discussion: Pheochromocytoma symptoms may vary regardless of tumor size. Giant pheochromocytoma may not have high secretory potential due to central necrosis resulting in reduced chromaffin cells or catecholamines that are restricted to capsular mass which may release into the bloodstream intraoperatively1. Therefore, initiating alpha-blockers before surgery in these cases may prevent perioperative complications.1. Minei S, Yamashita H, Koh H, Satoh T, Kobayashi S, Furuhata M, et al. Giant cystic pheochromocytoma A case report. Hinyokika Kiyo. 2001;47:561-3. Presentation: Friday, June 16, 2023

OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C&amp;gt;T SDHC Mutation: Insights On SDHC Phenotype And Outcomes

Abstract Disclosure: S. Parisien-La Salle: None. D. Nadine: None. Z. El-Haffaf: None. A. Lacroix: None. A. Gimenez-Roqueplo: None. I. Bourdeau: None. Introduction: Germline SDHC pathogenic variants in pheochromocytomas and paragangliomas (PGLs) (PPGLs) are rare with a prevalence of 1-2% (1). The associated phenotype of patients with SDHC mutated PPGLs remains unclear. Objective: Describe the phenotype and outcomes of our cohort of patients with PGL carrying the recurrent SDHC c.397C&amp;gt;T (p.Arg133Ter) mutation due to a likely French Canadian founder effect (2). Methods: We retrospectively reviewed the charts of patients with SDHC related PPGLs from 2005-2022 to analyse their phenotype and outcomes. Results: In our genotyped PPGL cohort, 35% (84/240) of patients had an identified germline pathogenic/likely pathogenic variant in a known PPGL susceptibility gene. Of these, 27.4% (23/84) had a mutation in the SDHC gene. The SDHC c.397C&amp;gt;T mutation was identified in 87% (20/23) of SDHC patients, all being French Canadians. In the SDHC c.397C&amp;gt;T group, mean age at diagnosis was 46.3 years old. Sixty-five percent (13/20) presented with head and neck PGLs (HNPGL) and 35% (7/20) with thoraco-abdominal PGLs (TAPGLs), with 2 being intracardiac and one retrocardiac PGLs. There were no pheochromocytomas. Fifteen percent (3/20) had metastatic disease and 20% (4/20) had multiple tumors. One patient also presented with a GIST. TAPGLs were functional in 85.7% (6/7) of cases (mostly norepinephine/normetanephrine) and HNPGLs were biochemically active in 38.5% (5/13) of cases (mostly dopamine). In these 20 SDHC c.397C&amp;gt;T mutated patients with PGLs, 12 underwent curative surgery and were considered in remission. The PGL recurrence rate was of 25% (3/12) during a mean follow-up time of 11.4 years. The other 3 patients were not of French Canadian origin and had pathogenic variants that had previously been described: SDHC c.487T&amp;gt;C (p.Ser163Pro), SDHC c.380 A&amp;gt;G (p.His127Arg) and SDHC c.1A&amp;gt;G (p.Met1Val). Conclusion: The SDHC c.397C&amp;gt;T mutation is very prevalent in patients with PGLs who are of French Canadian descent due to a likely founder effect. Compared to other SDHC cohorts, SDHC c.397C&amp;gt;T PGLs showed a lower rate of metastasis and associated tumors, but a higher rate of multiple PGLs. Although this may indicate a possibly less aggressive phenotype, the recurrence rate was high at 25%, thus requiring close monitoring and lifelong follow-up. Bibliography: 1. Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, et al. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol. 2017;13(4):233-47.2. Bourdeau I, Grunenwald S, Burnichon N, Khalifa E, Dumas N, Binet MC, et al. A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL. J Clin Endocrinol Metab. 2016;101(12):4710-8. Presentation: Friday, June 16, 2023

Pituitary Stalk Interruption Syndrome in a Child: A Rare Case Report with Literature Review

Introduction Pituitary stalk interruption syndrome is an exceedingly rare congenital abnormality affecting the pituitary gland that is still not fully understood. This study presents a 7-year-old child with the disease. Case presentation A 7-year-old male child was presented with short stature, school performance postponement, and an intellectual disability at a mild level. At 6.5 years of age, he had no facial features, was wearing eyeglasses, and had a weight and height of 20 kg (25th percentile) and 101 cm (3rd percentile), respectively. At the age of 7 years, his height was 117 cm (10th percentile) and his weight was 25 kg (50th percentile). Most laboratory tests were normal. However, insulin-like growth factor-1 and glucagon levels were low. A dynamic magnetic resonance imaging of the pituitary gland revealed an ectopic posterior pituitary lobe and the absence of a pituitary stalk. The patient was put on hormone replacement therapy (Norditropin pen) to control the growth hormone deficiency, and he was put under a close follow-up to monitor growth and panhypopituitarism. Conclusion Although hormone replacement therapy is associated with satisfactory outcomes in treating the syndrome, lifelong follow-up is indicated as new hormone deficiencies may arise later in life.

Adverse health outcomes and global quality of life in long-term testicular cancer survivors: a longitudinal 30-year perspective

In Testicular Cancer Survivors (TCSs, Diagnosis 1980-1994) to describe the prevalence of self-reported Adverse Health Outcomes (AHOs), AHO changes and their effect on Health-Related Quality of Life (HrQoL), assessed at two survey waves median 12 and 28 years after surgery-only or platinum-based chemotherapy (PBCT)."Typical AHOs" (peripheral sensory neuropathy [PSN], Raynaud phenomena [RP], tinnitus, hearing loss [HL]) were emphasized. 427 TCSs were evaluable: Surgery-Only (n: 155), PBCT-Standard: ≤850 mg cisplatin (n: 222), PBCT-High: >850 mg cisplatin (n: 50). Men from the general population represented a control group (Norms) for HrQoL comparison. Statistical significance level: p <0.05. Clinical importance (for testing HrQoL differences): Δ ≥2.5 points. More TCSs after PBCT than after surgery-only reported typical AHOS, the highest prevalence rates observed after PBCT-High. Further, the number of TCSs describing typical AHOs, except Raynaud phenomena, increased during the observation period of 16 years. At the last survey wave median four AHOs (any type) were reported after PBCT-High compared to median two AHOs after surgery-only or after PBCT-Standard. With surgery-only as reference PBCT-High, but not PBCT-Standard, was at the last survey wave associated with decreasing physical HrQoL (regression coefficient: -4.3; p:0.008 Comparing all TCSs with Norms no clinically important difference of physical and mental HrQoL was observed at either survey wave. However, at the last survey wave TCSs after PBCT- High represented a subgroup with clinically important impairment of HRQoL. Of the typical AHOs only PSN reduced HrQoL. Chronic fatigue, pain, anxiety / depression, sexual dysfunction, unemployment, being single and low education were additional covariates. At a median of 28 years after treatment, HrQoL was similar in Norms and in TCSs, despite increasingly prevalent AHOs, in particular after PBCT-High. Prior PBCT-High identifies TCSs at high-risk of significantly increased prevalence of long-term AHOs and reduced HrQoL, these TCSs requiring particular awareness during life-long follow-up.

Posterior urethral valve in thai boys

BackgroundPosterior urethral valve (PUV) is the most common congenital bladder outlet obstruction in boys, causing renal damage beginning in utero. There are scarce data from Thailand regarding the long-term outcomes of PUV in boys, thus the aim of this study was to examine the presentation, clinical course, complications, outcomes and renal survival in PUV boys.MethodsWe reviewed the medical records of PUV boys treated at the Pediatric Nephrology Clinic, Prince of Songkla University, Thailand, over a 30-year-period.ResultsSeventy-seven PUV boys were identified, with a median age at diagnosis of 4.8 months. The most common presentations were urinary tract infection (UTI), poor urine stream and urinary dribbling in 26 (33.8%), 19 (24.7%) and 11 (14.3%) boys, respectively. Renal ultrasound results in 70 boys showed 8 (11.4%) unilateral and 56 (80%) bilateral hydronephroses. Of 72 voiding cystourethrograms, 18 (25.0%) showed unilateral and 22 (30.6%) bilateral vesicoureteral refluxes. 99mTc dimercaptosuccinic acid renal scans in 30 boys showed 12 (40%) unilateral and 8 (26.7%) bilateral renal damage. Fifty-nine (76.6%) boys had 149 UTIs; 42 (54.4%) had recurrent UTI. Forty-eight boys had valve ablation at the median age of 30.3 months. 22 boys (28.6%) developed chronic kidney disease (CKD) at a median age of 15.0 years.ConclusionOf 77 PUV Thai boys, UTI was the most common presentation. Recurrence of UTI and CKD was the most common consequence. Lifelong follow-up for renal and bladder functions is essential for all PUV patients.

Chlamydia pneumonia infection and risk of multiple sclerosis: A meta-analysis.

The role of infectious agents, including Chlamydia pneumoniae (Cpn), in the development of multiple sclerosis (MS), is still a matter of major contention. This meta-analysis study aimed to assess the actual involvement of Cpn in MS development. We undertook a search of international scientific databases to identify eligible studies. We used a random-effects meta-analysis model (REM) to generate the pooled odds ratio (OR) and 95% confidence intervals (CIs). Heterogeneity was calculated using the I2 statistic. Sensitivity and subgroup analyses were applied to assess the effects of study characteristics and socio-demographic variables on the pooled OR. We identified 37 studies comprising 51 datasets that satisfied the inclusion criteria. Considering diagnostic methods for Cpn, 26 and 25 datasets used PCR- and serological-based methods, respectively. In PCR-based datasets, REM showed a significant positive association between Cpn infection and the development of MS (OR, 5.29; 95% CI, 3.12-8.97), while a non-significant positive association was achieved in serological-based datasets (OR, 1.34; 95% CI, 0.88-2.03). In subgroup analyses on PCR-based datasets, results were significant for both CSF (OR, 5.70) and serum (OR, 4.84) samples; both healthy (OR, 16.11) and hospital-based (OR, 2.88) controls; and both moderate (OR, 5.14) and high (OR, 5.48) quality studies. In serological-based datasets, only those that used CSF samples yielded significant results (OR, 3.41). Our findings verify the significant positive relationship between Cpn infection and MS. We advocate prospective cohort studies with lifelong follow-ups and also experimental studies to better understand the role of Cpn in MS development.

The experiences of mothers of children with food allergy: A qualitative study

BackgroundFood allergies adversely affect the quality of life of the child and family, as they require lifelong treatment and follow-up. This study aims to examine the experiences of mothers who have children with food allergies within the framework of the biopsychosocial-spiritual model. MethodsThis study, using a qualitative research design, was carried out with mothers of children followed up with food allergy in the pediatric allergy outpatient clinic of a university hospital between December 15, 2022 and January 05, 2023. Purposive sampling method was used in the study and semi-structured interviews were conducted with 12 mothers. All interviews were audio recorded and transcribed. Inductive thematic analysis method was used. The study was written based on the COREQ checklist. FindingsThree themes, eight sub-themes, and 19 categories were identified: The effects of the disease on the physical health of the child and mother in the biological effects theme; psychosocial responses to disease, adaptation to treatment, future anxiety, coping strategies, and communication/interaction in the psychosocial effects theme; search for purpose-meaning in life and understanding belief/basic human values in the spiritual effects theme. DiscussionIt has been concluded that food allergies affect maternal health extensively, especially in the psychosocial field, and that it affects family relationships, the time that mothers spare for themselves, and physical and spiritual health. Application to practiceThe findings will be a guide for improving the quality of life of mothers followed up with food allergies and for the care and counseling support to be provided to mothers.