ABSTRACT
BACKGROUND: Given the evolution of early diagnosis guidelines and future disease-modifying therapies, estimating the prevalence of Alzheimer's disease (AD) at early stages is key. OBJECTIVE: To estimate the number of people living with mild cognitive impairment (MCI) due to AD and mild AD dementia in France in 2022 that could be eligible to future AD therapies. METHODS: A step-by-step approach was defined based on disease stages definition and clinical practice. In line with AD guidelines, amyloid-positive profile is considered in our estimates to enhance the diagnosis accuracy of early stages of AD. Age-stratified prevalence from French cohort and international pooled analyses were identified to feed the different steps. To consider uncertainty around mean prevalence values, low and high scenarii based on the lower and upper bounds of the 95% confidence interval were conducted. RESULTS: We estimated that 2.5 (low scenario: 1.7 - high scenario: 3.6) million people suffer from mild cognitive impairment in France in 2022 among whom 1.65 (low: 1.5 - high: 1.8) million people meet the criteria for mild cognitive impairment due to AD i.e., with amyloid positive profile. The expected number of clinical AD dementia is estimated at 925,886 people. Among those, 379,278 people suffer from mild AD dementia based on clinical diagnosis, including 311,043 (low: 289,174 - high: 328,332) cases with amyloid positive profile. CONCLUSION: MCI due to AD, and mild dementia stages are potentially of high prevalence. Population-based studies are needed to confirm those estimates.
Subject(s)
Alzheimer Disease , Cognitive Dysfunction , Dementia , Humans , Alzheimer Disease/diagnosis , Alzheimer Disease/epidemiology , Alzheimer Disease/psychology , Prevalence , Dementia/diagnosis , Cognitive Dysfunction/diagnosis , AmyloidABSTRACT
We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C deficiency (<10 mol/l; normal range: 26-84). The patient's tiredness was attributed to this vitamin C deficiency, which is a frequent side-affect of the fructose-free diet. A change in diet associated with a supplementation in vitamin C was advised, with an increase in vegetable intake, principally avoiding carrots, onions, leaks and tinned sweet-corn. This case offers the opportunity for a review of this rare disease. Two kinds of fructose metabolism disorders (both autosomal recessive) are recognized: 1) essential fructosuria caused by a deficiency of fructokinase, which has no clinical consequence and requires no dietary treatment; 2) HFI, linked to three main mutations identified in aldolase B gene that may be confirmed by fructose breath test, intravenous fructose tolerance test, and genetic testing. In HFI, fructose ingestion generally induces gastro-intestinal (nausea and vomiting, abdominal pain, meteorism) and hypoglycemic symptoms. Fasting is well tolerated. If the condition remains undiagnosed, it leads to liver disease with hepatomegaly, proximal tubular dysfunction, and slow growth and weight gain. In conclusion, endocrinologists should be aware of this rare metabolic disease in order to provide careful follow-up, particularly important when the patient reaches adulthood. Moreover, hypoglycemia induced by fructose absorption, unexplained liver disease, irritable bowel syndrome or familial gout in an adult is suggestive of the diagnosis.
Subject(s)
Fructose Intolerance/diagnosis , Fructose Intolerance/genetics , Adolescent , Ascorbic Acid/therapeutic use , Asthenia/etiology , Diagnosis, Differential , Diet , Fructose/metabolism , Fructose Intolerance/diet therapy , Fructose Intolerance/physiopathology , Fructose-Bisphosphate Aldolase/deficiency , Glycogen/metabolism , Humans , MaleABSTRACT
PIP: Menorrhagia is frequent during the 1st months following the insertion of an IUD. However if irregular bleeding persists or appears after a certain time of well tolerated IUD use, a complete examination must be performed. The patient must be questioned concerning the date of insertion and the type of IUD, and concerning the symptoms. When placing an IUD, the doctor must inform the patient of the possibility of heavier periods. No symptomatic treatment should be prescribed without performing a complete examination. The clinical examination must be followed by complementary examinations according to the clinical results. The 2 diagnoses to eliminate in priority are ectopic pregnancy and infection. The doctor should always keep in mind the possibility of ectopic pregnancy in women wearing an IUD. No IUD should be inserted in nulliparous women, nor in women with heavy periods or unexplained metrorrhagia. The contraindications concerning IUD insertions must be respected. The doctor must advise the patient to come regularly for check-ups and to consult in case of any abnormal sign.^ieng
Subject(s)
Contraception , Diagnosis , Intrauterine Devices , Menorrhagia , Metrorrhagia , Contraception Behavior , Disease , Evaluation Studies as Topic , Family Planning Services , Hemorrhage , Infections , Menstruation Disturbances , Parity , Pregnancy , Pregnancy, Ectopic , Signs and SymptomsABSTRACT
PIP: In case of post oral contraception amenorrhea it would be advisable to: 1) perform a thorough gynecological examination and gather a full medical history; 2) reassure the patient, explaining that in most cases ovulation will return spontaneously; 3) if the patient wants to continue contraception, advise the use of IUD or of an intravaginal contraceptive device; and 4) if the patient wishes to become pregnant start therapy with clomiphene or bromocriptine.^ieng
