MAQĀṢID DIRĀSAT AL-MA'RIFAH AL-TĀRĪKHIYYAH FĪ AL-QUR'ĀN AL-KARĪM

The Holy Quran is the undisputed first source of science in the Islamic heritage. However, this source has faded in some human sciences that have been affected by positivist thought and Western epistemology, including the science of history. This paper aims to restore consideration of the Holy Quran as a methodological and cognitive source for historical studies. In order to achieve this goal, this paper invoked two aims of the study of historical knowledge in the Holy Qur’an, namely the purpose of methodological necessity and the purpose of cognitive sufficiency of the Qur’an as a source in the study of history. This paper relied on the qualitative approach, which starts by induction and description, then qualitative analysis, and ends with drawing conclusions. As a result, the paper invested the purposes of studying Qur’anic knowledge in the field of history to prove the cognitive value and methodological accuracy of the historical knowledge enshrined in the Holy Qur'an

OBJECTIVITY ISSUES IN ISLAMIC THOUGHT: A CONCEPTUAL APPROACH

Objectivity is a key standard to assess any intellectual work in Islamic Thought. This standard helps differentiate between methodological work that is characterized by objectivity, and doctrinal or ideological work where subjectivity predominates. However, there are major obstacles that stand in the way of applying this objective assessment; namely the problem of defining the boundaries between al-Manhajiyah (methodology) and al-Madhhabiyah (doctrinal thinking or ideology) in Islamic Thought. Defining those boundaries encounters, and is influenced by, a series of problems, most notably the conceptual confusion caused by the lack of precision in the definition of the words: al-Manhaj (method) and al-Madhhab (doctrine). This study aims at solving these problems by determining the points of convergence and divergence between what is purely objective and methodological, and what is purely subjective and based on doctrinal affiliation. In order to achieve this goal, this paper used a conceptual approach to study the concepts of al-Manhaj (method) and al-Madhhab (doctrine) based on their maturity, and the agreement upon their meaning. The paper also demonstrated the impact of each criterion on objectivity in Islamic Thought. The methods of research used in this study are thematic and qualitative analysis

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research. The design of the I-DSD and I-CAH Registries provides them with the ability to perform multiple studies and meet the standards for data elements, data sources and eligibility criteria. The registries follow the standards for data security, governance, ethical and legal issues, sustainability and communication of activities. The data have a high degree of validity, consistency and accuracy and the completeness is maximal for specific conditions such as androgen insensitivity syndrome and congenital adrenal hyperplasia. In terms of research output, the external validity is strong but the wide variety of cases needs further review. The internal validity of data was condition specific and highest for conditions such as congenital adrenal hyperplasia. The shift of the registry from a European registry to an international registry and the creation of a discrete but linked CAH registry increased the number of users and stakeholders as well as the international acceptability of both registries. The I-DSD and I-CAH registries comply with the standards set by expert organisations. Recent modifications in their operation have allowed the registries to increase their user acceptability

Virtual networks for exchanging information and biomaterials: future directions

Clinical and research networks for rare conditions are increasingly common nowadays. Given the rarity of many such conditions, there is a need to cover more conditions, yet there is also a need to sustain and improve the quality and effectiveness of existing networks. This review will discuss the qualities that are required by a virtual network using some international clinical and research networks that are currently active in the field of rare endocrine conditions affecting sex and adrenal development as exemplars

Long-term outcome of thyrotoxicosis in childhood and adolescence in the west of Scotland: the case for long-term antithyroid treatment and the importance of initial counselling

Background: Thyrotoxicosis is both rarer and more severe in children than in adults, rendering management difficult and often unsatisfactory. Objective: To ascertain outcome in a geographically defined area of Scotland between 1989 and 2014. Method: Retrospective case note review with follow-up questionnaire to family doctors for patients with Graves’ disease and Hashimoto’s thyroiditis. Results: Sixty-six patients (58 females:8 males) comprising 53 with Graves’ disease and 13 with Hashimoto’s thyroiditis were diagnosed at median 10.4 (2.9–15.8) years and followed up for 11.8 (2.6–30.2) years. Antithyroid drug (ATD) therapy was stopped electively in 35 patients after 4.5 (1.5–8.6) years, resulting in remission in 10/13 Hashimoto’s thyroiditis and 10/22 Graves’ disease. Side effects occurred in 12 patients receiving carbimazole, six of whom changed to propylthiouracil; no adverse events occurred in the latter patients. Second-line therapy was given to 37 patients (34 with Graves’ disease), comprising radioiodine (22) at 15.6 (9.3–24.4) years for relapse (6), poor control/adherence (14) or electively (2); and surgery (16) at 12 (6.4–21.3) years for relapse (4), poor control/adherence (5) and electively (7). Adherence problems with thyroxine replacement were reported in 10/33 patients in adulthood. Conclusions: Hashimoto’s thyroiditis should be distinguished from Graves’ disease at diagnosis since the prognosis for remission is better. Remission rates for Graves’ disease are low (10/53 patients), time to remission variable and adherence with both ATD and thyroxine replacement often problematic. We recommend (a) the giving of long-term ATD rather than a fixed course of treatment in GD and (b) meticulous and realistic counselling of families from the time of diagnosis onwards

Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life

Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%). Reduced fetal movements (FM) occurred in 82.5% patients compared with 4% healthy siblings. Of 35 children born since 1999, 23 were diagnosed clinically within 28 days while diagnosis in 12 was > 28 days: 1-12 months in 7; and 3.75-10.5 years in 5. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity

Involving individuals with disorders of sex development and their parents in exploring new models of shared learning: Proceedings from a DSDnet COST Action workshop

The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet. A coordinator, in collaboration with a support group representative, led the workshop design and delivery. Our successful, facilitated workshop involved 33 attendees from 8 EU countries. The workshop provided individuals with DSD, parents, advisory groups, and professionals with an opportunity for shared learning. Outputs focused on 7 key areas, including diagnosis, childhood, and transition to adult care as well as fostering discussion around registries, future research topics, consent processes, and information needs across the life course. The importance of trustworthy and knowledgeable providers, time to understand such rare conditions, and the place support groups have in a life course approach were valuable learning points for all attendees. In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions

Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Background. Hypogonadism is a key feature of Prader–Willi syndrome (PWS) but clear strategies for hormone replacement are lacking. Objective. To evaluate the gonadal status and outcome in patients attending a Scottish PWS clinic from 1991 to 2019. Methods. In 93 (35F:56M) patients, median follow-up 11.2 years, gonadal and pubertal status were assessed clinically. Pelvic ultrasound findings and basal/stimulated gonadotrophins were compared with age-matched controls. Results. Females:of 22 patients aged > 11, 9 had reached B4–5, while 5 were still at B2–3, and 6 remained prepubertal. Eight patients experienced menarche aged 9.8–21.4 years, none with a normal cycle. Uterine length and ovarian volumes were normal but uterine configuration remained immature, with low follicular counts. Gonadotrophins were unremarkable, serum oestradiol 129 (70–520) pmol/L. Only 5 patients received oestrogen replacement. Males:fifty-four (96%) patients were cryptorchid (9 unilateral). Weekly hCG injections resulted in unilateral/bilateral descent in 2/1 of 25 patients. Of 37 boys aged > 11, 14 (9 with failed/untreated bilateral cryptorchidism) failed to progress beyond G1, 15 arrested at G2–3 (testes 3–10 mL), and 8 reached G4–5. Gonadotrophins were unremarkable except in boys at G2–5 in whom FSH was elevated: 12.3/27.3 vs 3.25/6.26 U/L in controls (P < 0.001). In males aged > 13, testosterone was 3.1 (0.5–8.4) nmol/L. Androgen therapy, given from 13.5 to 29.2 years, was stopped in 4/24 patients owing to behavioural problems. Conclusion. Despite invariable hypogonadism, few females and only half the males with PWS in this study received hormone replacement. Double-blind placebo-controlled crossover trials of sex steroids are required to address unproven behavioural concerns