ABSTRACT
Hereditary forms of renal phosphate wasting have been studied thoroughly in the past years. X-linked Hypophosphatemic rickets (XLH), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and autosomal recessive hypophosphatemic rickets (ARHR) are known genetic disorders in which a disturbance of phosphatonins is a causative factor in the pathogenesis. We describe a comparable but yet undescribed disorder in a family in which a 53 year old man presented with a spontaneous fracture after suffering for years with severe fatigue and musculoskeletal pains. A low serum phosphate was discovered. The two subsequent generations of this family developed the same symptoms but at an earlier age. Almost all family members have been investigated and the majority appears to have low bone density and/or renal phosphate wasting and/or low serum phosphate. Remarkably no rickets was found. No elevation of FGF23 or mutations in the gene encoding FGF23 were found. We believe this is a new familial disorder of bone metabolism and phosphate homeostasis in which a disturbance of bone modulators may play a central role.
Subject(s)
Bone Diseases, Metabolic/complications , Bone Diseases, Metabolic/genetics , Fibroblast Growth Factors/genetics , Hypophosphatemia, Familial/complications , Hypophosphatemia, Familial/genetics , Adolescent , Age Factors , Bone Density , Bone Diseases, Metabolic/metabolism , Fatigue/etiology , Female , Fibroblast Growth Factor-23 , Fractures, Bone/etiology , Humans , Hypophosphatemia, Familial/metabolism , Male , Middle Aged , Pedigree , Young AdultABSTRACT
Refractive surgery modifies anatomic properties of the eye, in order to improve vision without the recourse to optical devices. It includes corneal surgery (radial keratotomy, excimer laser keratectomy), intraocular surgery (artificial lens implantation) and scleral surgery. The level of satisfaction of the patients who have benefit from this surgery is usually high, but is related to the selection of the subjects, which depends on the motivation and also on the default to be corrected. Despite the continuous progress of that surgery, it is not devoid of risks and complications.
Subject(s)
Keratomileusis, Laser In Situ , Keratotomy, Radial , Photorefractive Keratectomy , Humans , Lasers, ExcimerABSTRACT
In a 33-year-old woman with a recent flaccid paralysis of the arms and legs, laboratory tests demonstrated a severe hypokalemia with hyperchloremic metabolic acidosis and abnormally acidified urine. The urinary anion gap was positive in the presence of acidosis, thus establishing the diagnosis of distal renal tubular acidosis. The patient made a full recovery after potassium and alkali replacement. Further investigation revealed Sjögren's syndrome as the underlying cause.
Subject(s)
Acidosis, Renal Tubular/etiology , Hypokalemia/etiology , Paralysis/etiology , Sjogren's Syndrome/complications , Acid-Base Equilibrium , Acidosis, Renal Tubular/diagnosis , Adult , Female , Humans , Hypokalemia/diagnosis , Muscle Hypotonia , Sjogren's Syndrome/diagnosisABSTRACT
The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one boy were affected with this rare syndrome. The parents were first cousins once removed and unaffected. Genome wide homozygosity mapping using 386 microsatellite markers linked the locus to 20p13. A maximum multipoint lod score of 4.20 was obtained at marker D20S179. The minimal critical region is 7.73 cM between markers D20S199 and D20S437. These results confirm the syndromic association of congenital corneal dystrophy and teenage onset hearing loss, and further increase the genetic heterogeneity of recessive deafness.
Subject(s)
Chromosome Mapping , Corneal Dystrophies, Hereditary/genetics , Deafness/genetics , Adult , Chromosome Mapping/methods , Female , Genetic Linkage/genetics , Humans , Male , Nuclear Family , SyndromeABSTRACT
The main clinical activities developed during the first 25 year of the department are described. Topics of fundamental and also clinical research are briefly reviewed.
Subject(s)
Hospital Departments , Ophthalmology , Belgium , Biomedical Research , Hospitals, University , HumansABSTRACT
BACKGROUND: Measuring flow in dialysis shunts is recommended to predict imminent thrombosis. Multiple methods for measuring blood flow are in use. Numerous ultrasound protocols exist which determine volume flow using a conventional Doppler (CD) frequency shift analysis technique. All of these are subject to potentially large errors. Quantitative colour velocity index (CVI-Q) does not make use of the Doppler equation and is more precise in vitro. Ultrasound dilution (UD) measures access flow during dialysis in a non-operator-dependent way. The aim of the present study was to compare these three methods of measuring access flow in vivo for agreement with each other. METHODS: In 38 accesses flow was measured by CD, CVI-Q, and UD. All measurements were done during dialysis. Agreement was determined by intraclass correlation coefficient (ICC=R(i)) and Bland-Altman analysis. RESULTS: ICC between UD and CVI-Q was R(i)=0.56. ICC between UD and CD was R(i)=0.10, and ICC between CD and CVI-Q was R(i)=0.16. Bland-Altman analysis revealed a bias (mean difference) of -38 ml/min between UD and CVI-Q, a bias of 1129 ml/min between UD and CD, and a bias of 1167 ml/min between CVI-Q and CD. CONCLUSIONS: CD measurements did not agree with UD or CVI-Q much higher values were recorded with the former than with the latter two techniques. The agreement between UD and CVI-Q measurements is low but reasonable. Caution must be applied in comparing and interpreting values of access flow measured by different techniques.
Subject(s)
Blood Flow Velocity , Catheters, Indwelling , Ultrasonography/methods , Adult , Humans , Renal Dialysis , Ultrasonography, DopplerABSTRACT
Omeprazole is a proton pump inhibitor widely used in the treatment of gastro-esophageal reflux disease and peptic ulcer disease. In a 73-year-old man we describe renal failure due to acute interstitial nephritis after use of omeprazol during 4 months. Unexpected renal failure without signs of hydronephrosis should always provoke awareness of drug reaction, omeprazole being one of the possible drugs.
Subject(s)
Acute Kidney Injury/etiology , Enzyme Inhibitors/adverse effects , Nephritis, Interstitial/chemically induced , Omeprazole/adverse effects , Acute Kidney Injury/pathology , Acute Kidney Injury/physiopathology , Aged , Gastroesophageal Reflux/complications , Gastroesophageal Reflux/drug therapy , Humans , Male , Nephritis, Interstitial/complications , Nephritis, Interstitial/pathology , Nephritis, Interstitial/physiopathology , Recovery of Function/drug effects , Treatment OutcomeABSTRACT
We report the case of a 21 year old man who has severe headache and blurred vision since 2 weeks. Ophthalmologic examination discloses typical lesions of acute posterior multifocal placoid pigment epitheliopathy and an homonymous right inferior quadrantanopsia. An inflammatory syndrome and a cerebrospinal fluid lymphocytosis are found. Cerebral imagery is normal. Headache improves only with corticotherapy. We conclude that the neurological attack associated with this acute posterior multifocal placoid pigment epitheliopathy is most likely due to a cerebral vasculitis.
Subject(s)
Headache/etiology , Retinal Diseases/complications , Retinal Diseases/diagnosis , Vision Disorders/etiology , Adult , Fluorescein Angiography , Humans , Male , Pigment Epithelium of Eye , Vasculitis, Leukocytoclastic, Cutaneous/complicationsABSTRACT
PURPOSE: To describe a case of herpes simplex virus primary infection after a corneal transplantation and to analyse different possible ways by which the infection could have been transmitted. METHODS: A corneal transplanted patient for a Fuchs dystrophy complains 10 days postoperatively of a flu-like syndrome with keratouveitis. Donor and recipient viral serologies and a polymerase chain reaction analysis of aqueous humor were performed. RESULTS: An herpetic seroconversion is observed with presence of type I herpes simplex virus (HSV I) nucleic acids in the recipient's aqueous humor. The donor herpetic serology is negative. CONCLUSION: In this patient, the most probable routes of transmission of the virus are a viral reactivation from the trigeminal ganglion of the recipient, the presence of the virus in the corneal transplant or an external contamination.
Subject(s)
Cataract Extraction , Fuchs' Endothelial Dystrophy/surgery , Herpes Simplex/etiology , Herpesvirus 1, Human , Herpesvirus 1, Human/genetics , Herpesvirus 1, Human/isolation & purification , Humans , Male , Middle Aged , Polymerase Chain Reaction , Postoperative Complications , Recurrence , Trigeminal Ganglion/virologyABSTRACT
The myopia and its aggravation depend on genetic and environmental factors. Experiences performed on monkeys and chickens indicate that the quality of the image affects the growth on the ocular globe in the young animal by modifying biochemical conditions at the retinal level. If near work seems to be a factor associated to the myopia, the role of sustained accommodation on the evolution of the former is not evident. The correction of the myopia by glasses can be made with the help of different materials that will be chosen according to the importance of the myopia, the morphology of the face, the priority of the esthetics or the security.
Subject(s)
Myopia/therapy , Accommodation, Ocular/physiology , Adolescent , Adult , Age Factors , Animals , Chickens , Child , Child, Preschool , Environment , Equipment Design , Esthetics , Eye/growth & development , Eyeglasses , Haplorhini , Humans , Infant , Myopia/etiology , Myopia/genetics , Retina/physiology , Vision, Ocular/physiology , Visual Acuity/physiologyABSTRACT
The bifocal glasses present three main disadvantages: the jump of the image when the visual axis passes from the far vision glass to the reading segment, the prismatic effect on the near vision point that entails an apparent displacement of the fixed object as well as a degradation of the quality of its image, and the absence of intermediate vision in total presbyopia. Bifocals however keep their indications, even after the availability of the progressive glasses, by people accustomed with this kind of correction, and by others who are not supporting deformations in the lateral vision of the progressive glasses. Suggestions are made for choosing the model of bifocal which is the most appropriate in function of the different situations.
Subject(s)
Eyeglasses , Accommodation, Ocular/physiology , Equipment Design , Fixation, Ocular/physiology , Humans , Lenses , Optics and Photonics , Presbyopia/physiopathology , Refraction, Ocular/physiology , Refractive Errors/therapy , Surface Properties , Visual Acuity/physiology , Visual Fields/physiologyABSTRACT
A serous macular detachment in one eye with spontaneous flattening is seen twice during acute pancreatitis in a man aged thirty-four years who has a pancreatic malformation and an optic disc coloboma of this eye. Fluorescein angiography discloses the classic sequence of an optic disc pit complicated by maculopathy. Vascular leakage attributed to acute pancreatitis is also seen in the macula. Every time, both retinal detachment and vascular leakage have disappeared in few days. The mechanism responsible for the development of the macular detachment in this case is discussed.
Subject(s)
Coloboma/complications , Macula Lutea , Optic Disk/abnormalities , Pancreatitis/complications , Retinal Detachment/complications , Acute Disease , Adult , Humans , MaleABSTRACT
BACKGROUND: Chronic haemodialysis causes blood loss and iron-deficiency. This can be corrected with intravenous preparations, e.g. sodium ferric-gluconate (FeGl). In two patents complaints of hypotension and malaise during FeGl infusion coincided with high levels of serum iron and a calculated transferrin iron saturation above 100%. Iron toxicity could be the cause of these complaints. Free iron is known to aggravate the toxicity of free radicals and other reactive oxygen products that are constantly formed in the body. We compared four rates of FeGl infusion with regard to iron parameters. METHODS: 20 dialysis patients received a total of 26 infusions of FeGl. A rapid infusion of 135 mg (Protocol A (n=10)) or 62.5 mg (Protocol B (n=7)) of FeGl was given during the last 30 min of dialysis. A slow infusion of 125 mg (Protocol C (n=9)) or 62.5 mg (Protocol D (n=10)) was given during 4 or 4.5 h of dialysis. Blood was taken at regular intervals, before, during, and after dialysis for determination of serum iron, transferrin, ferritin, haematocrit, total protein, albumin, and lactate dehydrogenase (LDH). Transferrin saturation was calculated from transferrin and serum iron. RESULTS: With rapid infusion A (125 mg) the highest levels of serum iron (median 120 (range 40-159) micromol/l) and transferrin saturation (207 (84-331)%) were seen at the end of the infusion. These were significantly higher than the peak levels with B, C, and D (P=0.03). With rapid infusion B (62.5 mg), peak levels were intermediately high (serum iron 61 (50-96) micromol/l; transferrin saturation 118 (91-174)%). With slow infusion C (125 mg) similar peak levels were seen (serum iron 83 (43-106) micromol/l; transferrin saturation 141 (88-172)%). With slow infusion D (62.5 mg), the lowest peak levels were seen (serum iron 38 (31-55) micromol/l; transferrin saturation 78 (43-92)%). These levels were significantly lower than those with A, B and C (P<=0.002). Only with D all patients showed a transferrin saturation lower than 100%. Ferritin was increased before the next dialysis in all patients. LDH was not significantly elevated during any infusion. CONCLUSIONS: The commonly used rapid infusion rate (A) of FeGl causes 'oversaturation' of transferrin. This is compatible with iron toxicity due to free iron which may explain our patients' complaints. Free iron cannot be measured directly. LDH as a crude measure of cell damage was not elevated. Better measurements to prove free iron toxicity, like lipid peroxides, are not yet readily available. Infusion during a longer period at a lower dose (D) is effective and eliminates 'Oversaturation' of transferrin and probably the danger of iron toxicity.
Subject(s)
Ferric Compounds/adverse effects , Renal Dialysis/adverse effects , Transferrin/metabolism , Adult , Aged , Aged, 80 and over , Female , Ferric Compounds/administration & dosage , Humans , Infusions, Intravenous , Iron/blood , Iron Deficiencies , Male , Middle AgedABSTRACT
Transmission of infectious agents from a patient to the following one in the medical office may result from infected collyria, from contact to the cornea by infected instruments or simply by the hands of the medical staff if some rules of hygiene are not respected. The prevention comprises the instillation without contact of the collyria, the adequate disinfection of instruments and the frequent hand washing. The disinfection of the tonometers and contact glasses aims particularly the elimination of viruses. If the virus of herpes, hepatitis and acquired immunodeficiency are eliminated by hypochlorite, oxygenated water and alcohol after 10 minutes, the adenovirus which is not coated is on the other hand resistant to alcohol and may survive several days on instruments. Ideally the disinfection would have to be performed between each utilization by soaking in bleach water at 500 ppm, or in chloramine 0.5%, or in hydrogen peroxide 3% (during 10 minutes). The alcohol may damage the glue of diagnostic contact lens. The hypochlorite attacks the metal. In case of possible contact with the blood of the patient, the wear of gloves is counseled (for example for fluorescein angiography) and is of course mandatory for surgical procedures in the office like excision of chalazion or keratotomy. Disposable needles will be thrown in solid wall containers reserved to this aim without being recapped.
Subject(s)
Cross Infection/prevention & control , Eye Diseases/microbiology , Infection Control/methods , Cross Infection/transmission , Disinfection/standards , Drug Contamination/prevention & control , Humans , Ophthalmic Solutions/standards , Ophthalmology/instrumentationABSTRACT
A man aged 68 years presents superior limbal infiltrates at his left eye two weeks before a marginal ulcer which quickly perforates. He has no systemic complaint. Clinical, biological, radiologic and histological evaluations disclose superior airways and lungs implications, an inflammatory syndrome, high ANCA (antineutrophiles cytoplamic antibodies) titer and vasculitis. There is no sign of renal involvement. A limited form of Wegener's granulomatosis is diagnosed. The outcome is favorable with a partial penetrating keratoplasty and systemic corticosteroid therapy in association with immunosuppressive drugs. This so called limited form of Wegener's granulomatosis is sight threatening when eye is the initial presentation. The early diagnostic and treatment will be performed by the help of ANCA in cases with subclinical systemic manifestations.
Subject(s)
Corneal Ulcer/diagnosis , Granulomatosis with Polyangiitis/diagnosis , Aged , Antibodies, Antineutrophil Cytoplasmic/blood , Corneal Ulcer/blood , Corneal Ulcer/therapy , Glucocorticoids/therapeutic use , Granulomatosis with Polyangiitis/blood , Granulomatosis with Polyangiitis/therapy , Humans , Immunosuppressive Agents/therapeutic use , Keratoplasty, Penetrating , Lung/pathology , MaleABSTRACT
A 67-year-old man with a history of an attack of pancreatitis was repeatedly investigated for recurrent gastrointestinal bleeding necessitating blood transfusions. Routine investigations did not reveal the source of bleeding. Repeated angiograms also were not diagnostic. A hot spot identified on a 99mTc-pertechnate-labelled erythrocyte scan prompted an endoscopic retrograde cholangio-pancreatography (ERCP), which showed bleeding through the papilla of Vater. The source of bleeding appeared to be a small pancreatic pseudocyst. The patient was treated with a duodenopancreatectomy in which the pylorus was preserved. No rebleeding occurred since the operation. Pancreatic pseudocysts must be considered as a source of upper gastrointestinal bleeding in patients with bleeding of "obscure" origin. 99mTc-pertechnate-labelled erythrocyte scanning and ERCP may be helpful, even when angiography is normal.
Subject(s)
Gastrointestinal Hemorrhage/etiology , Pancreatic Pseudocyst/complications , Aged , Cholangiopancreatography, Endoscopic Retrograde , Humans , Male , Pancreatic Pseudocyst/diagnostic imagingABSTRACT
A man aged 43 in good health complaints of sudden blurred vision in his right eye, 12 days after a generalized chickenpox eruption. Examination shows an intraocular inflammation with retinal necrosis in temporal periphery. The serum antibodies against varicella-zoster are positive for the IgM and IgG, confirming a recent infection by varicella zoster. Bacterial serology is negative, as well as the serology for the HSV, HIV and CMV. An intraocular production of anti varicella-zoster antibodies is also found by an anterior chamber puncture (Goldmann-Witmer ratio = 1338). A general treatment by acyclovir and corticoids is started, completed by local treatment and cryocoagulation of the retinal periphery. The evolution is favorable, with recovery of the visual acuity and cicatrization of the lesions. The severity of acute retinal necrosis as a complication of a chickenpox infection usually is moderate, with a good visual prognosis as by our patient.
Subject(s)
Chickenpox/complications , Retinal Necrosis Syndrome, Acute/etiology , Vision Disorders/etiology , Acyclovir/administration & dosage , Adrenal Cortex Hormones/administration & dosage , Adult , Antibodies, Viral/isolation & purification , Cryosurgery , Drug Therapy, Combination , Humans , Male , Retinal Necrosis Syndrome, Acute/immunology , Retinal Necrosis Syndrome, Acute/therapyABSTRACT
The Epstein-Barr virus (EBV) is the causative factor of the posttransplant lymphoproliferative syndromes. Some ocular cases were described. We report the case of a lung-transplanted 59 year old man who presented a chorioretinal lymphoproliferative syndrome. A B-cell monoclonality and numerous EBV genome copies were demonstrated in vitreous material by PCR. We suspect an intermediate stage between polyclonal lymphoproliferative syndrome and malignant lymphoma. A treatment with nucleoside analogs and immunosuppression decrease was successful. The positive clinical evolution was associated with a reduction of the EBV genome quantity.
Subject(s)
Chorioretinitis/virology , Herpesvirus 4, Human , Immunosuppressive Agents/adverse effects , Lung Transplantation/immunology , Lymphoproliferative Disorders/virology , Herpesvirus 4, Human/genetics , Humans , Male , Middle Aged , Polymerase Chain ReactionABSTRACT
A boy aged 12 prematurely born presents several signs of fetal alcohol syndrome (FAS): mild mental retardation, staturoponderal delay, microcephaly, thin philtrum and vermillion of the upper lip. The ophthalmological aspects are: telecanthus, retinal vascular tortuosity, hypoplastic optic discs, hypermetropia, and an uniform, diffuse posterior haze on both corneas. This haze, which is not described till now as part of the syndrome, is not present in the other members of his family. Radiologic and biologic investigations (namely the profile of the urinary and seric amino acids, the urinary organic acids, and the research for mucopolysaccharides) are normal. Karyotype is normal as well as the research for fragile X which is negative.
Subject(s)
Corneal Opacity/complications , Fetal Alcohol Spectrum Disorders/complications , Child , Cornea/cytology , Corneal Opacity/diagnosis , Corneal Opacity/pathology , Humans , Infant, Newborn , Infant, Premature , Male , Retinal Vessels/abnormalitiesABSTRACT
OBJECTIVE: To report the case of a patient with haemorrhage in a large hepatic cyst. PATIENT: A 66-year-old man, who presented with right shoulder pain and subsequent sudden abdominal pain. A large hepatic cyst containing blood was found at ultrasonography. INTERVENTIONS: The patient was treated conservatively. RESULTS: The patient's symptoms resolved quickly. No symptoms or complications recurred during a follow-up of 2 years. CONCLUSION: Therapy for non-parasitic liver cysts is indicated when symptoms or complications related to the cysts occur. This case shows that spontaneous haemorrhage into a non-parasitic hepatic cyst may follow a benign course and may be treated conservatively.