Objective

To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program.

Design

A prospective evaluation of pancreatic function in infants with CF at the time of neonatal diagnosis and up to the age of 12.

Setting

Two different centres (Verona, Italy and Westmead, Australia) to enable comparison of results between two regions where <60% or ⩾90% of patients, respectively, have at least one single ΔF508 a mutation.

Patients

315 children with CF including 149 at Verona and 166 at Westmead.

Interventions

Fat balance studies over 3–5 days and pancreatic stimulation tests with main outcome measures being faecal fat or pancreatic colipase secretion. Patients with malabsorption are pancreatic insufficient (PI) or with normal absorption and pancreatic sufficient (PS).

Results

34 infants (23%) at Verona and 46 (28%) at Westmead were PS at diagnosis. 15% of those with two class I, II or III “severe” mutations and 26/28 (93%) of those with class IV or V mutations were PS at this early age. Of the 80 infants with PS, 20 became PI before the age of 12. All 20 had two severe mutations.

Conclusion

Neonatal mutational screening programs for CF are less likely to detect PS patients with non‐ΔF508 mutations. Of PS patients who are detected, those with two severe class I, II or III mutations are at particularly high risk of becoming PI during early childhood.

Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF.

The sweat test has been used for more than 50 years for the diagnosis of cystic fibrosis (CF) and remains an important diagnostic test in the genomic era. The currently used reference intervals for sweat electrolytes are applied to all patients regardless of age or sex. We performed a systematic review to summarise the studies with published reference values of sweat electrolyte concentrations for the diagnosis of CF. The MEDLINE (from 1950), EMBASE (from 1980) and PubMed (from 1950) databases were searched for English language studies. An abstract was also found by hand-searching. The search generated 1136 articles that matched the search key terms. Of these, 17 studies that contained data on sweat electrolyte concentrations were included in the analysis. Among these, seven studies did not perform the sweat test in accordance with current international and Australian guidelines. Of the ten remaining studies, four reported both the sweat sodium and chloride concentrations and six reported sweat chloride concentration only. A major limitation of these studies was the subject selection. Most recruited patients with various medical conditions including respiratory diseases or undefined recruitment criteria, whilst some did not report the subjects’ age and some had small subject numbers. Only one study performed mutation analysis to determine carrier status. No study used appropriate statistical analysis to develop a sweat chloride reference interval. The literature review yielded no studies that reliably developed reference intervals for sweat electrolyte concentrations. The limitations of the studies highlight the need for reliable age-related reference intervals for sweat electrolyte concentrations in healthy subjects.

Cystic fibrosis (CF) is the most common inherited disorder of childhood. The diagnosis of CF has traditionally been based on clinical features with confirmatory evidence by sweat electrolyte analysis. Since 1989 it has been possible to also use gene mutation analysis to aid the diagnosis. Cloning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has advanced our understanding of CF, in particular the molecular basis of an expanded CF phenotype. However, because there are over 1000 mutations and 200 polymorphisms, many without recognised effects on CFTR, the molecular diagnosis can be troublesome. This has necessitated measurement of CFTR function with renewed interest in the sweat test. This review provides an overview of the clinical features of CF, the diagnosis and complex genetics. We provide a detailed discussion of the structure and function of CFTR and the classification of CFTR mutations. Sweat electrolyte analysis is discussed, from the physiology of sweating to the rigours of a properly performed sweat test and its interpretation. With this information it is possible to understand the relevance of the sweat test in the genomic era.

Objective: To present the case of a collegiate tennis player with celiac disease symptoms.

Background: Celiac disease is a common intestinal disorder that is often confused with other conditions. It causes severe intestinal damage manifested by several uncomfortable signs and symptoms. Failure by the sports medicine staff to recognize symptoms consistent with celiac disease and treat them appropriately can have deleterious consequences for the athlete.

Differential Diagnosis: Irritable bowel syndrome, Crohn disease, Addison disease, lupus erythematosus, juvenile rheumatoid arthritis, lactose intolerance, herpes zoster, psychogenic disorder (depression), fibromyalgia, complex regional pain syndrome, hyperthyroidism, anemia, type I diabetes.

Treatment: The athlete underwent a series of blood and allergen tests to confirm or refute a diagnosis of celiac disease. When celiac disease was suspected, dietary modifications were made to eliminate all wheat-based and gluten-based products from the athlete's diet.

Uniqueness: The athlete was able to fully compete in a competitive National Collegiate Athletic Association Division I tennis program while experiencing the debilitating effects associated with celiac disease. The immediacy of symptom onset was notable because the athlete had no history of similar complaints.

Conclusions: Celiac disease is a potentially life-threatening condition that affects more people than reported. A properly educated sports medicine staff can help to identify symptoms consistent with celiac disease early, so damage to the intestine is minimized. Prompt recognition and appropriate management allow the athlete to adjust the diet accordingly, compete at a high-caliber level, and enjoy a healthier quality of life.

Objective:

To present a new arthroscopic technique, the laser-assisted capsular shift (LACS), which decreases glenohumeral instability and reduces recovery time over traditional surgical procedures.

Background:

A student-athlete hyperabducted her right shoulder while diving for a ball during a volleyball match. She complained of pain, weakness, and inability to raise her arm above shoulder height in any plane.

Differential Diagnosis:

Capsular sprain, subluxation, rotator cuff strain, glenoid labral lesion.

Treatment:

The student-athlete was unable to play due to pain and dysfunction and so elected to have the LACS procedure performed.

Uniqueness:

The LACS procedure is a relatively new procedure for tightening the capsule and decreasing glenohumeral instability. Immobilization and recovery time are reduced when compared with traditional treatment methods.

Conclusions:

The LACS procedure appears to be a good alternative to some of the traditional methods used to treat glenohumeral instability.