The relationship between working memory and anxiety in individuals with early treated phenylketonuria (PKU).

OBJECTIVE: Although early diagnosis and treatment prevent the severe impairments associated with untreated phenylketonuria (PKU), individuals with early treated PKU (ETPKU) nonetheless experience significant neurocognitive and psychological sequelae, including difficulties in working memory (WM) and increased risk of anxiety. The primary objective of the present study was to examine the extent to which anxiety may moderate the relationship between ETPKU and WM performance. METHOD: A sample of 40 adults with ETPKU and a demographically comparable sample of 40 healthy adults without PKU completed a comprehensive assessment of WM performance and anxiety symptomatology. Data were collected using a variety of remote assessment methods (e.g., web-based neurocognitive tests, semistructured interview, report-based measures). RESULTS: The ETPKU group demonstrated significantly poorer WM performance as compared to the non-PKU group. The groups did not differ significantly in anxiety; however, high anxiety was more common in the ETPKU group (53% of sample) than the non-PKU group (33%). A significant interaction between anxiety, metabolic control (as reflected by Phe levels), and WM performance was observed for the ETPKU group. Individuals with high anxiety and/or high Phe levels (> 360 µmol/L) performed poorer than the non-PKU group. Individuals with low anxiety and relatively low Phe levels (< 360 µmol/L) performed comparably to the non-PKU group. CONCLUSIONS: Anxiety was found to moderate the relationship between Phe levels and WM performance in individuals with ETPKU. This finding underscores the importance of accounting for anxiety when evaluating neurocognitive performance in individuals with ETPKU whether for research or clinical purposes. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Total choline intake and working memory performance in adults with phenylketonuria.

BACKGROUND: Despite early diagnosis and compliance with phenylalanine (Phe)-restricted diets, many individuals with phenylketonuria (PKU) still exhibit neurological changes and experience deficits in working memory and other executive functions. Suboptimal choline intake may contribute to these impairments, but this relationship has not been previously investigated in PKU. The objective of this study was to determine if choline intake is correlated with working memory performance, and if this relationship is modified by diagnosis and metabolic control. METHODS: This was a cross-sectional study that included 40 adults with PKU and 40 demographically matched healthy adults. Web-based neurocognitive tests were used to assess working memory performance and 3-day dietary records were collected to evaluate nutrient intake. Recent and historical blood Phe concentrations were collected as measures of metabolic control. RESULTS: Working memory performance was 0.32 z-scores (95% CI 0.06, 0.58) lower, on average, in participants with PKU compared to participants without PKU, and this difference was not modified by total choline intake (F[1,75] = 0.85, p = 0.36). However, in a subgroup with complete historical blood Phe data, increased total choline intake was related to improved working memory outcomes among participants with well controlled PKU (Phe = 360 µmol/L) after adjusting for intellectual ability and mid-childhood Phe concentrations (average change in working memory per 100 mg change in choline = 0.11; 95% CI 0.02, 0.20; p = 0.02). There also was a trend, albeit nonsignificant (p = 0.10), for this association to be attenuated with increased Phe concentrations. CONCLUSIONS: Clinical monitoring of choline intake is essential for all individuals with PKU but may have important implications for working memory functioning among patients with good metabolic control. Results from this study should be confirmed in a larger controlled trial in people living with PKU.

Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.

Choline is an essential nutrient for brain development and function that is attained through high-protein foods, which are limited in the phenylalanine-restricted diet of people with phenylketonuria (PKU). This study compared choline consumption among individuals with PKU to a reference sample from the National Health and Nutrition Examination Survey (NHANES), and identified treatment and diet-related factors that may modulate choline needs. Participants were individuals with PKU (n = 120, 4-61 years) managed with dietary therapy alone (n = 49), sapropterin dihydrochloride for ≥1 year (n = 38), or pegvaliase for ≥1 year with no medical food (n = 33). NHANES participants were not pregnant or nursing and came from the 2015-2018 cycles (n = 10,681, 4-70 years). Dietary intake data were used to estimate total usual intake distributions for choline, and mean probability of adequacy (MPA) was calculated as a summary index of nutrient adequacy for four methyl-donor/co-factor nutrients that impact choline utilization (folate, vitamin B12, vitamin B6, and methionine). Only 10.8% (SE: 2.98) of the total PKU sample (14.7% [SE: 4.03] of children; 6.8% [SE: 2.89] of adults) achieved the adequate intake (AI) for choline, while 12.2% (SE:0.79) of the NHANES sample met the recommended level. Adults receiving pegvaliase were the most likely to exceed the AI for choline (14.82% [SE: 4.48]), while adults who were on diet therapy alone were the least likely (5.59% [SE: 2.95]). Without fortified medical foods, individuals on diet therapy and sapropterin would not be able to achieve the AI, and MPA for other methyl donor/co-factor nutrients would be reduced. More frequent monitoring of choline intake and increased choline fortification of medical foods could benefit this population.

Plasma metabolomic profile changes in females with phenylketonuria following a camp intervention.

BACKGROUND: There remains a limited understanding of the metabolic perturbations, beyond phenylalanine (Phe) metabolism, that contribute to phenotypic variability in phenylketonuria (PKU). OBJECTIVES: This study aimed to characterize changes in the PKU plasma metabolome following a 5-d metabolic camp intervention and to compare PKU profiles with those of matched healthy controls. METHODS: In 28 females (aged 12-57 y), fasting plasma samples were collected on the first (day 1) and final (day 5) days of camp to measure metabolic control and to complete untargeted metabolomic profiling. Three-day dietary records were collected to assess changes in dietary adherence and composition. Univariate (Wilcoxon signed-rank and Mann-Whitney U test) and multivariate (random forest, hierarchical clustering) analyses were performed to identify clinical and metabolic features that were associated with the intervention and disease state. RESULTS: Relative to healthy controls, Phe catabolites, ketones, and carnitine- and glycine-conjugated fatty acids were elevated in females with PKU at baseline, whereas fatty acylcholine metabolites were substantially lower. After the camp intervention, plasma Phe concentrations decreased [median change: -173 µmol/L (IQR: -325, -28 µmol/L)] and 70% of PKU participants demonstrated improved dietary adherence by decreasing Phe intake and/or increasing medical food consumption. This was accompanied by a shift in abundance for 223 metabolites (q < 0.05). Compounds associated with the metabolism of Phe, fatty acids, and choline contributed most to profile differences between camp days 1 and 5. CONCLUSIONS: In females with PKU, untargeted metabolomics identified prominent perturbations in amino acid and lipid metabolites associated with bioenergetic impairment and oxidative stress. Choline-conjugated lipids could have fundamental roles in these pathways and they have not been previously evaluated in PKU. A short-term camp intervention was effective for improving or fully normalizing the abundance of the identified discriminatory metabolites.

[Fertility after hysteroscopic treatment of intra-uterine adhesions]. / Fertilité après cure hystéroscopique de synéchie.

OBJECTIVE: The main aim of the study was to evaluate the efficacy of hysteroscopy in the treatment of intra-uterine adhesions with infertility. PATIENTS AND METHODS: This retrospective study of patients with uterine synechias treated exclusively hysteroscopically included 120 cases: 109 of them (90.8%) low fertility patients, 110 (91.7%) with menstrual disorders and 2 (1.7%) with no others symptoms. Mean age was 34 years (range: 21-45 years). Operative hysteroscopy was performed in 155 cases including electrosection in 124 cases (80%) and a collapse in 31 cases (20%). A single endoscopic procedure was performed in 96 patients, 2 procedures in 17 patients, 3 in 3 patients and 4 in 4 patients. Mean follow-up was 26.8 months (range: 6-52 months). RESULTS: Good anatomic results were achieved in 116 patients (96.7%) after 1, 2 or 3 hysteroscopic procedures. We obtained good results in 58.2% of the patients with menstrual disorders. One pregnancy was achieved in 49 of patients (44.9%) including: 35 childbirth, 13 abortions and 1 molar pregnancy. DISCUSSION AND CONCLUSION: Hysteroscopy, easy procedure, allowing reproducible treatment with low morbidity should be proposed as first intention treatment in all cases with synechia. Fertility prognosis is tightly related to the gravity of synechia and its topography.

[Uterine adenomyosis. Clinical and therapeutic study. Report of 87 cases]. / Adénomyose utérine. Etude clinique et thérapeutique. A propos de 87 cas.

STUDY OBJECTIVE: The aim of our study is the analysis of Pound epidemiological, clinical, paraclinical and therapeutic aspects of adenomyosis. METHODS: A retrospective analysis was carried out on 87 patients who underwent hysterectomy for a variety of reasons (except for prolapse) between January 1, 1990, and December 31, 1997; and whose Histologic analysis of hysterectomy specimen revealed adenomyosis. RESULTS: 586 hysterectomy (except prolapse) was performed during the study period: frequency of adenomyosis in hysterectomy specimen is of 14.85%. The mean age of our patients is 43.97 years (Range: 26-64 years). 29.88% of them are postmenopausal and 41.37% had a past history of uterine trauma. Main symptoms were pelvic pain (71.22%) and abnormal uterine bleeding (82.77%). Preoperative diagnosis has been suspected on hysteroscopy in 63.22% of cases, hysterography in 58.46% and transvaginal sonography in 40.5%. A radical surgery first has been indicated in 57 cases, after failure of medical treatment in 16 cases and after failure of endometrial resection in 14 cases. Histologic analysis of the hysterectomy specimen shows associated myoma in 32.18% of cases, hyperplasia in 13.79%, polyps in 5.74% and atrophy in 3.44%. CONCLUSION: Adenomyosis, enigmatic disease, escapes always to a well-codified therapeutic strategy and bound closely related to hysterectomy. Earliest diagnosis could avoid the systematic evolution toward the radical treatments.

[Laparoscopic surgery of an intraperitoneal intrauterine device]. / Traitement coelio-chirurgical du stérilet intrapéritonéal.

This study involved 13 cases of patients fitted with intra-uterine contraceptive devices which migrated in the abdominal cavity. Laparoscopy enabled localization of the IUCD and full lesion assessment. It was removed by celio-surgery in all 13 cases. Difficulties encountered were due to parietoepiploic adhesions and IUCD impacted in the wall of the rectum.

[Predictive factors of macrosomia in diabetic pregnancies]. / Facteurs prédictifs de macrosomie dans la grossesse diabétique.

The authors carried out a retrospective analysis of 105 cases of pregnant diabetic patients in order to identify the women facing a high risk of a macrosomal birth. This group, which included 84 cases of diabetes of pregnancy and 21 cases of diabetes present before pregnancy, had an incidence of macrosomia of 46.6%. The patients were divided into 2 sub-groups: PM, which consisted of 49 diabetic patients with a macrosomal foetus and PN, consisting of 56 patients who delivered a foetus of normal weight. There was a significant correlation between the equilibrium of diabetes and the birth weight. However, there was a macrosomal rate of 35% in well-equilibrated patients. Comparison of the maternal characteristics did not reveal any significant difference between the two groups with regard to age, parity, history of macrosomia or weight gain during pregnancy. In contrast, the incidence of maternal obesity was significantly higher in the PM group. In addition, the induced hyperglycaemia values by oral route were higher in the mothers of macrosomal foetuses. The authors therefore think that obesity in diabetic pregnancy and orally-induced hyperglycaemia in diabetes of pregnancy provide an early test for macrosomia and make it possible to envisage prophylactic treatment.

[Maternal hydrocephaly and pregnancy. A new case report and review of the literature]. / Hydrocéphalie maternelle et grossesse. A propos d'une nouvelle observation et revue de la littérature.

The authors describe a fresh case combining hydrocephalus and pregnancy. The improved quality of the shunt used and neurosurgical methods available have transformed the prognosis for non-tumoral hydrocephalus. The ventriculo-peritoneal shunt malfunctioned during pregnancy in 50% of cases. In the absence of acute neurological complications at term due to distal malfunction of the shunt, vaginal delivery is to be preferred.

[Maffucci syndrome and ovarian tumor]. / Syndrome de Maffucci et tumeur ovarienne.

Maffucci's syndrome was first described in 1881 and results of a mesodermic dysembryoplasia, congenital but not hereditary. Pathogenic hypothesis are multiple. This syndrome is characterized by the occurrence of multiple haemangiomas in the soft tissue, and multiple enchondromas of the bones. The association of ovary tumor is however exceptional. Four cases are reported in the literature; we report the fifth case.

[Hysteroscopy and hysterosalpingography. Which examination to chose?]. / Hystéroscopie et hystérosalpingographie. Quel examen choisir?

The authors report 58 patients undergoing hysterosalpingography (HSG) then hysteroscopy (HC) for investigation of the uterine cavity. Comparison of HSG and HC findings revealed the following: In 26.9 per cent of cases HC disproved or rectified the result of HSG. Results of the two investigations were in agreement in 74.1 per cent of cases. In the light of our results, and after a review of the literature, HSG is indicated as the first line investigation for exploration of the uterine cavity and/or the tuboperitoneal level. HC alone is sufficient for exploration of the cervical canal and of the uterine cavity.

[Acardiac malformation: ultrasonographic diagnosis. A case report]. / Le monstre acardiaque: diagnostic échographique. A propos d'un cas.

Acardia is an extremely rare malformation which is seen in less than 1 per cent of monozygous twin pregnancies. Pathological aspects and etiopathogenic theories concerning this malformation are reviewed on the basis of a case diagnosed in utero at 24 weeks. The value of the antenatal diagnosis of this malformation is that of monitoring the progression of the pregnancy and predicting the fate of the healthy twin.

[Peripartum cardiomyopathy. Analysis of 3 cases and review of the literature]. / Cardiopathie du péri-partum. Analyse de 3 cas et revue de la littérature.

Peripartum cardiomyopathy is defined as a syndrome of cardiac failure occurring in the latter part of pregnancy or in the puerperium without obvious cause and without prior evidence of heart disease. Analysis of the particular features of this syndrome and a review of the literature indicate its similarity with other cardiomyopathies in terms of clinical features, natural history and treatment, but maternal and fetal prognosis is poor.

[Uterine fixation to the promontory and the Orr-Loygue operation in associated genital and rectal prolapse]. / La promonto-fixation utérine et l'intervention d'Orr-Loygue dans l'association prolapsus génital et prolapsus rectal.

The association of genital prolapse and rectal prolapse is rare. The authors report six cases of simultaneous mixed prolapse treated surgically via an abdominal approach. The latter technique enables the treatment of genital prolapse by uterine fixation to the promontory and rectal prolapse by rectopexy using the Orr-Loygue technique. Chronic constipation and obstetric trauma are constantly found among etiological factors. Four of our patients had urinary stress incontinence. There were no preoperative complications. One patient reported worsening of her constipation. Mean follow-up is only 20 months (2 months to 3 years), but no recurrences have occurred. Review of the literature and of series with more than fifteen years follow-up shows that the Orr-Loygue operation is reliable with a low complication rate and only rare recurrences.